Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
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Type A1 brachydactyly |
OMIM:188201 |
Sugarman Brachydactyly |
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Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
Digital Clubbing, Isolated Congenital |
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Clubbing |
OMIM:119900 |
Ectrodactyly-Polydactyly |
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Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
Brachydactyly, Type D |
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Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
Dystelephalangy |
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Curved distal phalanx of the 5th finger |
OMIM:128000 |
Brachydactyly, Type A3 |
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Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... |
OMIM:112700 |
Triphalangeal Thumb, Nonopposable |
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Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Syndactyly Type 2 |
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Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Familial Digital Arthropathy-Brachydactyly |
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Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
Triphalangeal Thumbs With Brachyectrodactyly |
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Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Split-Hand And Split-Foot With Hypodontia |
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Split hand, Split foot |
OMIM:183500 |
Brachydactyly, Type A1, D |
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Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t... |
OMIM:616849 |
Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
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Abnormal finger morphology |
OMIM:187390 |
Brachydactyly Type A2 |
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Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
Upper Limb Mesomelic Dysplasia |
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Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Madelung deformity, Limited pronation/supination of forearm |
DECIPHER:58 |
Postaxial Tetramelic Oligodactyly |
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Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Genochondromatosis |
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Metaphyseal chondromatosis of femur, Metaphyseal chondromatosis of humerus |
OMIM:137360 |
Radial Hemimelia |
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Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... |
ORPHA:93321 |
Trigger Thumb |
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Abnormal thumb morphology |
OMIM:190410 |
Thiemann Disease |
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Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Liebenberg Syndrome |
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Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
Ulnar Hypoplasia |
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Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Syndactyly, Type Iii |
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Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Brachydactyly, Type A1 |
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Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
Metacarpal 4-5 Fusion |
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Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... |
OMIM:309630 |
Syndactyly Type 1 |
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Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Brachydactyly, Type A1, C |
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Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
Brachydactyly, Type A1, B |
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Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
Split-Hand/Foot Malformation 4 |
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Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Tetramelic Monodactyly |
|
Split foot, Split hand, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... |
OMIM:606835 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
Polydactyly, Postaxial, Type A1 |
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Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Polydactyly, Preaxial Ii |
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Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Synpolydactyly 1 |
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2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Brachydactyly, Type C |
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Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Triphalangeal Thumb With Polysyndactyly |
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Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Postaxial Oligodactyly, Tetramelic |
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Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Split-Hand/Foot Malformation 2 |
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Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Brachydactyly-Syndactyly, Zhao Type |
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Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Split-Foot Malformation With Mesoaxial Polydactyly |
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1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
Broad Terminal Phalanges, Familial |
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Broad distal phalanx of the toes, Broad distal phalanx of finger |
OMIM:602071 |
Limb Defects, Distal Transverse, With Mental Retardation And Spasticity |
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Split hand |
OMIM:246555 |
Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Epiphyseal Dysplasia, Baumann Type |
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Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ... |
OMIM:610797 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
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Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
Hallux Varus And Preaxial Polysyndactyly |
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Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
Cleidorhizomelic Syndrome |
|
Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... |
ORPHA:1453 |
Craniosynostosis, Adelaide Type |
|
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... |
OMIM:600593 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
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Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... |
OMIM:182255 |
Thumb Deformity |
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Aplasia/Hypoplasia of the thumb |
OMIM:188100 |
Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Radioulnar synostosis, Limited pronation/supination of forearm |
OMIM:179300 |
Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Brachydactyly, Type A4 |
|
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact... |
OMIM:112800 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... |
OMIM:112450 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... |
ORPHA:50809 |
Thiemann Disease, Familial Form |
|
Limitation of joint mobility, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Avas... |
ORPHA:3314 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Curved Nail Of Fourth Toe |
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Short distal phalanx of finger |
OMIM:219070 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Brachydactyly Type E |
|
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... |
ORPHA:93387 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Heart-Hand Syndrome, Spanish Type |
|
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
Symphalangism, Proximal, 1B |
|
Clinodactyly of the 5th finger, Short 2nd finger, Abnormal finger flexion crease, Proximal/middle... |
OMIM:615298 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormal... |
ORPHA:1040 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Synophrys, Short met... |
ORPHA:1278 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Type A brachydactyly, Joint stiffness, Abnormal thumb morphology, Obesity, Abnormal metacarpal mo... |
ORPHA:1078 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint stiffness, Avas... |
OMIM:132400 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporo... |
ORPHA:93351 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Male hypogonadism, Azoospermia |
OMIM:241000 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... |
OMIM:120400 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat... |
OMIM:271650 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Anonychia-Ectrodactyly |
|
Split hand, Aplasia of metacarpal bones |
OMIM:106900 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
Cleidorhizomelic Syndrome |
|
Clinodactyly of the 5th finger, Rhizomelia, Short middle phalanx of the 5th finger |
OMIM:119650 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Absent proximal radial epiphyses, Elbow flexion contracture, Forearm undergrowth, Dislocated radi... |
OMIM:249600 |
Brachydactyly, Type A2, With Microcephaly |
|
Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,... |
OMIM:211369 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ... |
OMIM:164900 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... |
ORPHA:1275 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
Adams-Oliver Syndrome 3 |
|
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... |
OMIM:614814 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Limited elbow flexion, Short palm, Abnormal bone ossification, S... |
ORPHA:79106 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Multiple Synostoses Syndrome |
|
Brachydactyly, Joint stiffness, Symphalangism affecting the phalanges of the hand, Cone-shaped ep... |
ORPHA:3237 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, Sparse scalp hair, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow... |
OMIM:225280 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Talipes, Abnormality of the vertebr... |
ORPHA:1856 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... |
ORPHA:968 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Split foot |
OMIM:183700 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finger, Short distal... |
ORPHA:79445 |
Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Kyphosis, Cryptorchidism, Limited elbow extension, Short metatarsal... |
OMIM:180870 |
Blount Disease, Adolescent |
|
Genu varum, Osteochondritis dissecans, Bowing of the legs |
OMIM:259200 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Chromosome 2Q35 Duplication Syndrome |
|
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... |
OMIM:185900 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Postaxial hand polydactyly |
ORPHA:2935 |
Smith-Mccort Dysplasia 2 |
|
Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Br... |
OMIM:615222 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, External genital hypoplasia, Polydactyly, Hypogonadism, Micropenis, Brachydactyly |
OMIM:615983 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger |
ORPHA:1471 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... |
ORPHA:1350 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive |
|
Split foot, Split hand, Tapered finger |
OMIM:220600 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Radial bowing |
OMIM:617993 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal hip joint morphology, Knee pain, Delayed epiphys... |
OMIM:600969 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,... |
ORPHA:2249 |
Brachydactyly, Type E2 |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:613382 |
Cooks Syndrome |
|
Split hand, Triphalangeal thumb, Dystrophic fingernails, Broad thumb, Dystrophic toenail, Brachyd... |
ORPHA:1487 |
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral |
|
Short thumb, Short metacarpal, Duplication of the distal phalanx of the 5th finger, Abnormal meta... |
ORPHA:973 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Delayed skelet... |
OMIM:190351 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double... |
ORPHA:93307 |
Chromosome 2Q31.1 Duplication Syndrome |
|
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb |
OMIM:613681 |
Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b... |
ORPHA:2878 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Decreased body weight, Broad phalanx, Short phalanx of finger... |
OMIM:618724 |
Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay |
|
Metatarsus adductus, Unusual dermatoglyphics |
OMIM:112370 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Overweight, Tr... |
ORPHA:370010 |
Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Osteoarthritis, Metaphys... |
OMIM:177170 |
Paternal Uniparental Disomy Of Chromosome X |
|
Short metacarpal, Low posterior hairline, Infertility, Cubitus valgus, Micropenis, Decreased test... |
ORPHA:261524 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Polydactyly, Obesity |
OMIM:615988 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... |
OMIM:603546 |
Satoyoshi Syndrome |
|
Pes planus, Short metacarpal, Alopecia, Short metatarsal, Amenorrhea, Osteolytic defects of the p... |
OMIM:600705 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius |
ORPHA:1765 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse... |
OMIM:251450 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... |
OMIM:171480 |
Brachydactyly Type A4 |
|
Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte... |
ORPHA:93394 |
Jackson-Weiss Syndrome |
|
Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2... |
OMIM:123150 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... |
OMIM:227270 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short thumb, Postaxial hand polydactyly, Glandular hypospadias, Short 2nd toe, Short 5th finger |
OMIM:176305 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Small for gestational age, Upper limb phocomelia, Abnormality of the vertebral column... |
ORPHA:294975 |
Acromicric Dysplasia |
|
Short metacarpal, Ovoid vertebral bodies, Delayed skeletal maturation, Cone-shaped epiphysis, Sho... |
OMIM:102370 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cleft palate, Split foot, Cutaneous finger syndac... |
DECIPHER:46 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short metatarsal, Pseudohypoparathyroidism, Osteoporosis, Brachydactyly |
OMIM:612463 |
Tetrasomy X |
|
Premature ovarian insufficiency, Joint hyperflexibility, Radioulnar synostosis, Hip dysplasia, Cl... |
ORPHA:9 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bone mineral dens... |
OMIM:617974 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Hypospadias, Cryptorchidism, Short metatarsal, Advanced ossification of carpal ... |
OMIM:614613 |
Microphthalmia, Isolated 4 |
|
Absent testis, Postaxial polydactyly |
OMIM:613094 |
Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno... |
ORPHA:3266 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Hypogonadism, Polydactyly, Clinodactyly |
OMIM:615984 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Synophr... |
OMIM:605282 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap... |
OMIM:617247 |
Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali... |
OMIM:618435 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali... |
ORPHA:2491 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Intervertebral space narrowing, Micrognathia, Recurrent patel... |
OMIM:614078 |
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia |
|
Radioulnar synostosis, Dislocated radial head |
OMIM:266255 |
Metaphyseal Dysplasia, Spahr Type |
|
Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy... |
OMIM:250400 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid process, Flared ... |
OMIM:184252 |
Acromicric Dysplasia |
|
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Delayed skeletal maturation, Small han... |
ORPHA:969 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... |
OMIM:105835 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinoda... |
OMIM:140000 |
Myopathy, Distal, 3 |
|
Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... |
OMIM:610099 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... |
OMIM:609052 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Van Bogaert-Hozay Syndrome |
|
Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia |
OMIM:277150 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly |
OMIM:604381 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split foot, Split hand, Hand monodactyly |
OMIM:183800 |
Exostoses, Multiple, Type Ii |
|
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133700 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split ... |
ORPHA:971 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Acromegaloid Facial Appearance Syndrome |
|
Highly arched eyebrow, Tapered finger, Micrognathia, Synophrys, Large hands, Short 5th metacarpal... |
OMIM:102150 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombstone-shaped proximal... |
OMIM:108721 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Amyotrophy of an... |
ORPHA:399086 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal metacarpal morphology, Cli... |
ORPHA:3104 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, Kyphosis, Abnor... |
ORPHA:40 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal |
ORPHA:228190 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Short thumb, Short metacarpal, Cryptorchidism |
ORPHA:2489 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Winchester Syndrome |
|
Arthropathy, Hirsutism, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, ... |
OMIM:277950 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Hirschsprung Disease With Type D Brachydactyly |
|
Short thumb, Type D brachydactyly |
OMIM:306980 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly |
ORPHA:2787 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly of... |
OMIM:311895 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal... |
OMIM:618392 |
Jackson-Weiss Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... |
ORPHA:1540 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn... |
ORPHA:75508 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Scalp Defects And Postaxial Polydactyly |
|
Postaxial polydactyly type A |
OMIM:181250 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle atrophy, Hand muscle weakness, Abnormality of the foot musculature, Split hand, Dista... |
ORPHA:100998 |
Distal Symphalangism |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... |
ORPHA:3248 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... |
OMIM:156510 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly |
OMIM:113300 |
Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... |
OMIM:185800 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... |
ORPHA:429 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
Metatarsus Varus, Type I |
|
Metatarsus adductus |
OMIM:156520 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Coxa... |
OMIM:608940 |
Symphalangism, Distal |
|
Craniosynostosis, Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin cr... |
OMIM:185700 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint... |
ORPHA:2619 |
Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Synophrys, Brachydactyly |
OMIM:612001 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Urinary incontinence, Preaxia... |
OMIM:617927 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation, Knee disloca... |
OMIM:618395 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal... |
ORPHA:3250 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Renal insufficiency, Polydactyly, Renal cyst |
OMIM:615987 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly, Craniosynostosis |
ORPHA:1527 |
Summitt Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Obesity, G... |
ORPHA:3210 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Brachydactyly, Single transverse palmar crease, Abnormality of hair texture, Short first metatars... |
OMIM:601957 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
Mmep Syndrome |
|
Cryptorchidism, Split foot, Triphalangeal thumb |
ORPHA:3434 |
Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
Peripheral Dysostosis |
|
Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly... |
ORPHA:1795 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Split hand, Flexion contracture, Spa... |
ORPHA:2850 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... |
OMIM:184260 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Hypospadias, Short hallux, Proximal placement ... |
ORPHA:2438 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ... |
OMIM:617866 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Feingold Syndrome Type 2 |
|
Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,... |
ORPHA:1406 |
Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Highly ar... |
OMIM:216100 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Joint hyperflexibility |
ORPHA:238446 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
Acromesomelic Dysplasia 4 |
|
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... |
OMIM:619636 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... |
OMIM:600384 |
Summitt Syndrome |
|
Syndactyly, Obesity, Craniosynostosis |
OMIM:272350 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Pes planus, Tapered finger, Cryptorchidism, Short foot, Pes cavus, Thick eyebrow |
OMIM:309585 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Synophrys, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of th... |
ORPHA:3268 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal... |
OMIM:612961 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Brachydactyly |
OMIM:615995 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short toe, Short metatarsal, Osteoporosis, Pseudohypoparathyroidism, Subcutaneo... |
OMIM:103580 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptorchidism, Radio... |
OMIM:194350 |
Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Pes planus, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of... |
OMIM:609616 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ... |
ORPHA:2831 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger, Scoliosis, Brachydactyly |
ORPHA:1937 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Pes planus, Hypogonadotropic hypogonadism, Micrognathia, Split hand, M... |
OMIM:157900 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, External genital hypoplasia, Cryptorchidism, Renal cyst, Polydactyly, Hypogonadism, B... |
OMIM:615982 |
Eem Syndrome |
|
Finger syndactyly, Absent eyebrow, Sparse scalp hair, Ectrodactyly, Sparse body hair |
ORPHA:1897 |
2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Hypospadias, Postaxial polydactyly |
OMIM:615985 |
Charcot-Marie-Tooth Disease And Deafness |
|
Thenar muscle atrophy, Thenar muscle weakness, Split hand, Hammertoe, Distal amyotrophy, Limb mus... |
OMIM:118300 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Hypoplastic nipples, Camptodactyly, Joint cont... |
OMIM:603543 |
Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Talipes, Cryptorchidism, Limitation of joint mobility... |
ORPHA:376 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Short thumb, Small thenar eminence, Hypoplasia of the radius, Distally placed thumb |
OMIM:179270 |
Emery-Nelson Syndrome |
|
Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Low ... |
ORPHA:1927 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... |
OMIM:250420 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Pde4D Haploinsufficiency Syndrome |
|
Micrognathia, Accelerated skeletal maturation, Short metatarsal, Irregular vertebral endplates, B... |
ORPHA:439822 |
Marinesco-Sjogren Syndrome |
|
Pes planus, Short metacarpal, Hypergonadotropic hypogonadism, Coxa valga, Kyphosis, Flexion contr... |
OMIM:248800 |
W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Camptodactyly, Cub... |
ORPHA:2804 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ... |
ORPHA:2370 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Rectal atresia, Perineal fistula, Rectovaginal fistula, Ectrodactyly, O... |
ORPHA:3016 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Failure to thrive, Short hallux, Spinal rigidity, Limitation of joint mobility, Ec... |
ORPHA:337 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Platyspond... |
OMIM:619638 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Micrognathia, Ulnar bowing, Shortening of all distal phalanges of the fin... |
OMIM:619135 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc... |
OMIM:210720 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:435804 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Failure to thrive, Small for gestational age, Delayed skeletal maturation, Genu valgu... |
OMIM:608154 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Micrognathia, Abnormal fibula morphology, Tibial bowing,... |
ORPHA:3035 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Secondary amenorrhea, Irregular vertebral endplates, Platyspo... |
OMIM:612847 |
Chst3-Related Skeletal Dysplasia |
|
Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Flexion contracture, Abnormality o... |
ORPHA:263463 |
Metachondromatosis |
|
Abnormal joint morphology, Bowing of the long bones |
OMIM:156250 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
Metaphyseal Acroscyphodysplasia |
|
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic... |
ORPHA:1240 |
Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Pes planus, Camptodactyly of finger, Kyphoscoliosis, ... |
OMIM:612350 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ... |
OMIM:611717 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly |
ORPHA:2150 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Small hand, Obesity, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly |
OMIM:300577 |
Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e... |
OMIM:146000 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Ectrod... |
OMIM:147950 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h... |
OMIM:615994 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand |
OMIM:146160 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Cryptorchidism, Brachydactyly |
ORPHA:3303 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Cryptorchidism, ... |
ORPHA:65759 |
Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Short metacarpal, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal fibula morphology, Aplasia/Hypoplasia of the radius, Abnorm... |
ORPHA:1837 |
Craniosynostosis 3 |
|
Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Low anterior hairline,... |
OMIM:615314 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Distal amyotrophy, Split hand, Talipes equinovarus |
OMIM:607831 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Adducted thumb, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Brachydactyly |
OMIM:614257 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Cryptorchidism, Nephrocalcinosis, Short long bone, Brachydactyly |
OMIM:615633 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Thenar muscle atrophy, Thenar muscle weakness, Split hand, Distal amyotrophy, First dorsal intero... |
OMIM:270685 |
Congenital Vertical Talus |
|
Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Achilles te... |
ORPHA:178382 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... |
OMIM:226980 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Split hand, Hammertoe, Distal amyotrophy, Ulnar claw, Limb muscle weakness, Foot dorsiflexor weak... |
OMIM:118220 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m... |
OMIM:100800 |
Leri Pleonosteosis |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor... |
ORPHA:2900 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... |
OMIM:259600 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short metatarsal, Pseudohypoparathyroidism, Osteoporosis, Hypogonadism, Low uri... |
OMIM:612462 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis, Forearm undergrowth, Lower limb undergrowth |
OMIM:218650 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular necrosis of... |
ORPHA:2557 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... |
OMIM:108720 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Postaxial hand polydactyly, Multinodular goiter, Triphalangeal thum... |
ORPHA:2091 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Thick eyebrow, Broad hallux, Highly arched eyebrow, Micrognathia, Short first metatar... |
OMIM:613684 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... |
OMIM:609945 |
Sclerosteosis |
|
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty... |
ORPHA:3152 |
Weyers Acrofacial Dysostosis |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge... |
OMIM:193530 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Short metatarsal, Sm... |
OMIM:614813 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Split hand, Renal hypoplasia, Nail dystrophy, Camptodactyly |
OMIM:246560 |
Feingold Syndrome 2 |
|
Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyly, Short middle phalanx of ... |
OMIM:614326 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Zechi-Ceide Syndrome |
|
Sandal gap, Long foot, Short metatarsal, Short distal phalanx of finger |
OMIM:612916 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Renal cyst, Postaxial polydactyly |
OMIM:614970 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
Acces Syndrome |
|
Sparse scalp hair, Supernumerary nipple, Hip dislocation, Horseshoe kidney, Hip dysplasia, Split ... |
OMIM:619959 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Joubert Syndrome 10 |
|
Hirsutism, Postaxial polydactyly |
OMIM:300804 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Micrognathia, Cryptorchidism, Short 5th fin... |
ORPHA:397590 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, ... |
OMIM:616723 |
Shox-Related Short Stature |
|
Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo... |
ORPHA:314795 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Radioul... |
OMIM:212780 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Brachydactyly, Mesomelia |
ORPHA:1277 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral t... |
OMIM:601356 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Delayed skeletal maturation, Hypoplasia of the... |
OMIM:617604 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i... |
OMIM:151210 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Short metacarpal, Short neck, Short metatarsal, Cone-shaped epiphysis, Arthritis, Umb... |
OMIM:613328 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora... |
ORPHA:77258 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Split hand, Hammertoe, Distal amyotrophy, Talipes equinovarus, Ulnar claw, Foot dorsiflexor weakness |
OMIM:604563 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, External genital hypoplasia, Postaxial polydactyly, Mesoaxial hand polydacty... |
OMIM:615996 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... |
OMIM:617396 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Charcot-Marie-Tooth Disease Type 4D |
|
Abnormal foot morphology, Split hand, Upper limb amyotrophy, Distal upper limb muscle weakness, H... |
ORPHA:99950 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, External genital hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Irregular men... |
OMIM:615986 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... |
OMIM:614900 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... |
ORPHA:2256 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Sept... |
ORPHA:1319 |
20Q11.2 Microdeletion Syndrome |
|
Adducted thumb, Talipes calcaneovalgus, Finger clinodactyly, Camptodactyly, Brachydactyly |
ORPHA:444051 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Split hand, Hammertoe, Distal amyotrophy, Ulnar claw, Limb muscle weakness, Foot dorsiflexor weak... |
OMIM:118200 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Pes planus, Short metacarpal, Scapular winging, Ivory epiphyses of the distal phalang... |
OMIM:190350 |
49,Xyyyy Syndrome |
|
Abnormality of the epiphyses of the elbow, External genital hypoplasia, Large carpal bones, Abnor... |
ORPHA:99330 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... |
OMIM:618150 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Short 1st metacarpal, Delayed skeletal maturation, Joint hyperflexibility, Hip dysplasia, Short m... |
ORPHA:63442 |
Polydactyly-Myopia Syndrome |
|
Cryptorchidism, Postaxial hand polydactyly |
ORPHA:2917 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Toe syndactyly, Absent middle phalanx of 5th finger, Nail dystrophy, Triphalangeal thumb, Bilater... |
OMIM:124480 |
Seckel Syndrome 7 |
|
Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, ... |
OMIM:614851 |
Cohen Syndrome |
|
Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Single transverse palmar ... |
OMIM:216550 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Abnorma... |
ORPHA:3121 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Hypospadias, External genital hypoplasia, Postaxial polydactyly, Renal cyst, Vaginal ... |
OMIM:605231 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Osteoarthritis, Limitation of joint mobility, Ectopic ossif... |
ORPHA:2762 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Abnormality of the urethra, Split ... |
ORPHA:2145 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... |
ORPHA:1427 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Micrognathia, ... |
ORPHA:3409 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Split hand, Foot polydactyly, Duodenal atresia |
ORPHA:3004 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Accelerated skeletal maturation, Neonatal epiphyseal stippling, Short metatarsal, Hypoplastic ver... |
OMIM:101800 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Bra... |
OMIM:617405 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus,... |
OMIM:618019 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Azoospermia, Infertility, Scoliosi... |
ORPHA:1445 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Absent facial hair, Sparse facial hair, Low posterior hairline, A... |
ORPHA:2183 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly... |
ORPHA:166024 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis, Broad hallux, Accelerated skeletal maturation, Short thumb, Premature osteo... |
OMIM:165800 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Knee dislocation, Short phalan... |
OMIM:615777 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormal epiphysis morphology, Abnormal femur morphology, Anal atresia, Lower limb undergrowth |
ORPHA:2310 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedin... |
ORPHA:424019 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ... |
ORPHA:1836 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Pseudohypoparathyroidism, Low urinary cyclic AMP response to PTH administration... |
OMIM:603233 |
Joubert Syndrome 18 |
|
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Renal cyst, Horses... |
OMIM:614815 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... |
ORPHA:3098 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal mo... |
ORPHA:1307 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, ... |
ORPHA:2928 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Short fourth metatarsal, Short fifth metatarsal, Alopecia, Joint hypermobility, Trichorrhexis nod... |
OMIM:261990 |
Arthrogryposis, Distal, Type 7 |
|
Micrognathia, Metatarsus adductus, Hip dislocation, Cutaneous syndactyly of toes, Hammertoe, Dist... |
OMIM:158300 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Hand muscle atrophy, Short third metatarsal, Camptodactyly of finger, Peroneal muscle atrophy, Ab... |
ORPHA:324442 |
Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Joint hypermobility, Thoracolumbar kyphoscoliosis,... |
OMIM:618853 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Colon ... |
OMIM:174900 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Clinodactyly, Micrognathia |
ORPHA:357175 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb |
OMIM:602200 |
Restrictive Dermopathy 2 |
|
Rectal prolapse, Overtubulated long bones, Gastroesophageal reflux, Short clavicles |
OMIM:619793 |
Osteoglophonic Dysplasia |
|
Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B... |
OMIM:166250 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... |
ORPHA:957 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe... |
ORPHA:3201 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Hypospadias, Micrognathia, Cryptorchidism, Short middle phalanx of finger, Talipes equinovarus, M... |
OMIM:612626 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the hand, Sparse hair, Uncombable hair, Short 5th metacarpal, Brachydactyly |
ORPHA:1264 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Joint laxity, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding, Brachydactyly |
OMIM:619692 |
Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Stiff shoulders, Congenital hip dislocation, Overlapping toe, Single transverse ... |
OMIM:108120 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... |
OMIM:244600 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Solitary Bone Cyst |
|
Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Pathologic fract... |
ORPHA:83468 |
Rhyns Syndrome |
|
Short long bone, Radial bowing, Short femoral neck, Brachydactyly |
OMIM:602152 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, External genital hypoplasia, Stage 5 chronic kidney disease, Renal cyst, Hyp... |
OMIM:615993 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Postaxial foot polydactyly, Hypogonadism, Polydactyly |
OMIM:617119 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Brachydactyly |
OMIM:618618 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Femoral bowing, Knee flexio... |
OMIM:600920 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone miner... |
ORPHA:2611 |
Phenobarbital Embryopathy |
|
Hypospadias, Aplasia/Hypoplasia of fingers, Brachydactyly |
ORPHA:1919 |
Marshall Syndrome |
|
Radial bowing, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular femoral epiphy... |
OMIM:154780 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Joint stiffn... |
ORPHA:392 |
Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Knee flexi... |
OMIM:114300 |
Jeune Syndrome |
|
Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polyd... |
ORPHA:474 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
High anterior hairline, Sparse lateral eyebrow, Brachydactyly |
OMIM:618879 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Accelerated skeletal m... |
ORPHA:380 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Short phalanx of finger, Broad metacarpa... |
ORPHA:56304 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Flattened metatarsal heads, Arthropathy, Generalized morning stiffness, Coxa vara, Arthritis, Con... |
OMIM:208250 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Larsen Syndrome |
|
Finger syndactyly, Brachydactyly, Craniosynostosis, Large joint dislocations, Cryptorchidism, Acc... |
ORPHA:503 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Tapered finger, Short 3rd toe, Short thumb, Split hand, Low anterior hairline, Intrinsi... |
OMIM:618569 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Areflexia of lower limbs, Split hand, Pes cavus, Premature ovarian insufficiency |
OMIM:618124 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Clinodactyly, Micrognathia |
OMIM:615162 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, Cubitus valgus, Clinodactyly, ... |
OMIM:610313 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... |
OMIM:274000 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t... |
ORPHA:246 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Enlarged joints, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Pr... |
OMIM:215150 |
Zechi-Ceide Syndrome |
|
Sandal gap, Thick hair, Short metatarsal, Long foot, Short distal phalanx of finger |
ORPHA:217017 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short toe, Obesity, Short phalanx of finger, Type E br... |
OMIM:600430 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Peroneal muscle weakness, Hand ... |
ORPHA:101097 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Femoral bowing, Narrow... |
OMIM:207410 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Postaxial hand polydactyly |
OMIM:615937 |
Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Craniosynostosis |
ORPHA:2117 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid ... |
OMIM:184250 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... |
ORPHA:2496 |
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Bifid scrotum, Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
Rudiger Syndrome |
|
Single transverse palmar crease, Ureterovesical stenosis, Flexion contracture, Ovarian cyst, Bico... |
OMIM:268650 |
Aurocephalosyndactyly |
|
4-5 toe syndactyly, Craniosynostosis |
OMIM:109050 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... |
ORPHA:166002 |
Keipert Syndrome |
|
Joint laxity, Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad th... |
OMIM:301026 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... |
ORPHA:53697 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met... |
OMIM:602471 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Biconvex vertebral bodies, Single transverse palmar crease, Sh... |
OMIM:616651 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Split hand, Pes cavus |
OMIM:617882 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Genu recurvatum, Split hand, Prima... |
OMIM:604168 |
Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Recurrent fractures, Short neck, Small hand, Joint hyperfle... |
ORPHA:281 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Facial palsy, Split hand, Generalized amyotrophy, Dysphagia, Limb muscle weakness |
OMIM:614707 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Cryptorchidism, Widow's peak, Small hand, Micropenis, Broad finger, Clinodactyly, Short phalanx o... |
OMIM:614684 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Delayed skeletal maturation, Small hand, Short foot, Truncal obesity, Hypogonadis... |
ORPHA:261483 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Radioulnar ... |
ORPHA:2741 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... |
ORPHA:1858 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Cryptorchidism, Pseudohypoparathyroidism, Patellar hypoplasia, Renal hyp... |
ORPHA:464288 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Scapular winging, Short metacarpal, Toe syndactyly, Micrognathia, Delayed skeletal ... |
OMIM:170390 |
Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ... |
OMIM:620076 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, Micrognathia, 2-3 finger syndactyly, Clubbing ... |
ORPHA:2437 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral e... |
OMIM:234250 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Abnormal ... |
ORPHA:2879 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... |
OMIM:150250 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Micrognathia, Accelerated skeletal maturation, Irregular vertebral endplates, Knee dislocation, M... |
OMIM:618363 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micro... |
OMIM:600325 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Obesity, Tapered finger |
OMIM:618725 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxial hand polydactyly, Rena... |
OMIM:614175 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Ankle swelling, Microg... |
OMIM:166300 |
Microcephaly 27, Primary, Autosomal Dominant |
|
Tapered finger, Metatarsus adductus, Cryptorchidism, Short finger, Clinodactyly of the 5th finger... |
OMIM:619180 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Hypospadias, Cryptorchidism, Short toe, Coronal hypospadias, Ulnar deviation of f... |
ORPHA:921 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Abnormal foot morphology, Osteoarthritis, Osteolysis,... |
ORPHA:1657 |
Vertical Talus, Congenital |
|
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus |
OMIM:192950 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Hypospadias, Single transverse palma... |
OMIM:123450 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Pes planus, Urinary incontinence, Split hand, Intrinsic hand muscle atrophy, Absent Achilles refl... |
OMIM:616688 |
Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Split foot |
OMIM:601349 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Duplication involving bones of the feet, Anal atresia |
OMIM:246000 |
Pseudohypoparathyroidism Type 1C |
|
Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Decreased response to g... |
ORPHA:79444 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal foot morphology, Preaxial polydactyly, ... |
ORPHA:64754 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Osteoporosis, Joint hyperflexibil... |
ORPHA:1515 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c... |
ORPHA:2377 |
Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly |
ORPHA:168796 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc... |
OMIM:143095 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Highly arched eyebrow, Unila... |
OMIM:618142 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Micrognathia, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes |
ORPHA:2513 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density, Spinal dysraphism |
ORPHA:1114 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Male pseudohermaphr... |
ORPHA:1422 |
Fanconi Anemia, Complementation Group O |
|
Proximal placement of thumb, Absent thumb, Short thumb, Rectal atresia, Hypoplasia of the radius,... |
OMIM:613390 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Alopecia, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Trip... |
ORPHA:2251 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Postaxial hand polydactyly, Broad thumb, Short finger |
OMIM:300209 |
Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Finger syndactyly, Toe syndactyly, Small scrotum, Joint stiffness, Micrognathia, C... |
ORPHA:1300 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti... |
OMIM:258860 |
C Syndrome |
|
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, C... |
OMIM:211750 |
Disorganization, Mouse, Homolog Of |
|
Limb duplication, Hand polydactyly, Hip dislocation, Sacral meningocele |
OMIM:223200 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Brachydactyly, Single transverse palmar crease, Wormian bones, M... |
OMIM:601224 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Synophrys, Low anterior hairline, Short palm, Clinodacty... |
ORPHA:251014 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypospadias, Preaxial polydactyly, Hypogonadotropic hypogonadism |
ORPHA:141333 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sandal gap, Hypospadias, Postaxial polydactyly, Synophrys, Low anterior hairline, Broad distal ph... |
OMIM:615761 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Coronal craniosynostosis, Cone-shaped epiphyses of the phal... |
OMIM:602849 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Short neck, Short middle phalanx of the 2nd finger, Partial duplication ... |
OMIM:617926 |
Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... |
ORPHA:2980 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... |
ORPHA:2008 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli... |
OMIM:614091 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... |
OMIM:271600 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus |
OMIM:618845 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Increased intervertebral space, Thoracic platyspondyly, Met... |
OMIM:618961 |
Anauxetic Dysplasia 1 |
|
Joint laxity, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic ilia, Sh... |
OMIM:607095 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... |
ORPHA:989 |
Pitt-Hopkins Syndrome |
|
Pes planus, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse p... |
OMIM:610954 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Bifid scrotum, Brachydactyly, Hypoplasia of penis, Hypogonadotropic hypogonadism, Joint stiffness... |
ORPHA:1295 |
Laurence-Moon Syndrome |
|
Micropenis, Small scrotum, Polydactyly, Abnormality of the hand |
OMIM:245800 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocat... |
OMIM:620269 |
Weaver Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Joint stiffness, Mic... |
ORPHA:3447 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, ... |
ORPHA:319675 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Bifid scrotum, Short fourth metatarsal, Micrognathia, Clinodactyly, Cutaneous syndact... |
OMIM:615546 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Myelomeningocele, Narrow pelvis bone, Absent or minimally ossified vert... |
ORPHA:66637 |
Cornelia De Lange Syndrome 2 |
|
Thick eyebrow, Proximal placement of thumb, Limited elbow movement, Highly arched eyebrow, Microg... |
OMIM:300590 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
Aarskog-Scott Syndrome |
|
Finger syndactyly, Pes planus, Genu recurvatum, Single transverse palmar crease, Camptodactyly of... |
ORPHA:915 |
Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Delayed skeletal maturation, Abnormal form of the v... |
ORPHA:1458 |
Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Short long bone, Limb undergrowth, Brachydactyly |
ORPHA:221054 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Abnormal finger morphology, Gastroesophageal reflux, Phocomelia,... |
ORPHA:2538 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Amelia, Clinodactyly of the 5th finger, Decreased skull ossification,... |
OMIM:601163 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, Hypoplastic iliac wing, Abnor... |
ORPHA:93315 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Pes planus, Split hand, Hammertoe, Ulnar claw, Distal lower limb muscle weakness, Pes cavus |
OMIM:145900 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
Catel-Manzke Syndrome |
|
Camptodactyly of finger, Joint stiffness, Metatarsus valgus, Micrognathia, Radial deviation of th... |
ORPHA:1388 |
Nephronophthisis 15 |
|
Polydactyly, Nephronophthisis |
OMIM:614845 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Stage 5 chronic kidney disease, Brachydactyly |
OMIM:613819 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of... |
ORPHA:2319 |
Pelger-Huet Anomaly |
|
Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Pes cavus,... |
OMIM:169400 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Craniosynostosis, Delayed cr... |
OMIM:175700 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... |
ORPHA:1772 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Delayed closure of the anterior fontanelle, Lower limb asymmetry, Dela... |
ORPHA:231140 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Arthrogryposis, Distal, Type 2B1 |
|
Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Metatars... |
OMIM:601680 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of... |
ORPHA:239 |
Martsolf Syndrome 1 |
|
Micrognathia, Osteopathia striata, Low anterior hairline, Finger joint hypermobility, Short palm,... |
OMIM:212720 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Hyperlordosis, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal... |
ORPHA:2511 |
Nicolaides-Baraitser Syndrome |
|
Short palm, Joint dislocation, Alopecia, Sandal gap, Highly arched eyebrow, Curly eyelashes, Abno... |
ORPHA:3051 |
Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer |
ORPHA:209964 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Sparse scalp hair, Single transverse palmar crease, Adducted thumb, Hydrocele testis, High anteri... |
OMIM:620062 |
Steel Syndrome |
|
Pes planus, Lumbar hyperlordosis, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Sco... |
OMIM:615155 |
Joubert Syndrome 7 |
|
Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Renal cyst, Ge... |
OMIM:611560 |
Bnar Syndrome |
|
Anteriorly placed anus, Anal stenosis, Abnormal fifth toe morphology |
ORPHA:217266 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Sparse scalp hair, Tracheomal... |
ORPHA:1001 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Flared metaphysis, ... |
ORPHA:93346 |
Osteoglosphonic Dysplasia |
|
Rhizomelia, Failure to thrive in infancy, Craniosynostosis, Micrognathia, Cryptorchidism, Delayed... |
ORPHA:2645 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... |
OMIM:615503 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Palmar pits, Cryptorchidism, Pla... |
ORPHA:377 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Pes planus, Toe syndactyly, Pes cavus |
ORPHA:217377 |
Multiple Synostoses Syndrome 4 |
|
Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly |
OMIM:617898 |
Temtamy Syndrome |
|
Pes planus, Micrognathia, Short toe, Genu varum, Joint hyperflexibility, Clinodactyly of the 5th ... |
ORPHA:1777 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Alopecia, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteoly... |
ORPHA:88630 |
Zaki Syndrome |
|
Sparse scalp hair, Toe syndactyly, Micrognathia, Sparse eyebrow, Long fingers, Ectrodactyly, Broa... |
OMIM:619648 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... |
OMIM:250220 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Auriculoosteodysplasia |
|
Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius, Abnormal metacarpal morpholog... |
ORPHA:114 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Wide cranial sutures, Hypospadias, Micrognathi... |
OMIM:601390 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle... |
ORPHA:1952 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Functional abnormali... |
ORPHA:96148 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Hip joint hypermobility, Short proximal pha... |
ORPHA:15 |
Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Absent distal phalan... |
OMIM:618658 |
Pseudohypoparathyroidism Type 1A |
|
Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Decreased response to g... |
ORPHA:79443 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Micrognathia, Wrist swelling, Limitation of joint mobility, Os... |
ORPHA:2774 |
Polydactyly, Postaxial, Type A6 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger, Abnorm... |
OMIM:615226 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Joint laxity, Prominent metopic ridge, Arachnodactyly, Postaxial polydactyly, Tapered finger, Gen... |
OMIM:619721 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Wormian bones, Recurrent fractures, Fe... |
OMIM:610915 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn... |
ORPHA:363417 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial ne... |
OMIM:616629 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... |
ORPHA:1352 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Vertebral segmen... |
ORPHA:2631 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Pes planus, Craniosynostosis, Microgna... |
ORPHA:166035 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Clubbing, Multiple gastric polyps, Hamartomatous polyposis, Intestinal bleeding,... |
OMIM:175200 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... |
OMIM:215140 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Delayed skeletal maturation, Short toe, ... |
ORPHA:3085 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosyno... |
OMIM:619451 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Brachydactyly |
OMIM:617169 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Ambigu... |
OMIM:617895 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Branchial cyst, Small for gestational age, Short neck, Hip disloc... |
OMIM:615583 |
Neuropathy, Hereditary Sensory, Type If |
|
Hallux valgus, Osteomyelitis, Neuropathic arthropathy, Osteolytic defects of the phalanges of the... |
OMIM:615632 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Micrognathia, Small hand, Short foot, Clinodactyly of... |
ORPHA:444002 |
Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Brachydactyly, Joint stiffness, Elbow dislocation, Delayed skeletal maturat... |
ORPHA:1824 |
Joubert Syndrome 37 |
|
Decreased testicular size, Prominent metopic ridge, Postaxial polydactyly, Cryptorchidism, Sparse... |
OMIM:619185 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Short ribs, Hypopla... |
OMIM:173800 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ... |
OMIM:271640 |
Talonavicular Coalition |
|
Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali... |
OMIM:186750 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Hypospadias, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Vert... |
OMIM:268310 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Split hand |
OMIM:610127 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Cryptorch... |
OMIM:301900 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Kyphosis, Cryptorchidism, Flexi... |
OMIM:615547 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Arthrogryposis multiplex congenita, Areflexia of lower limbs, Calcaneovalgus deformity, Hyporefle... |
OMIM:162370 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Micrognathia, Cryptorchidism, Midshaft hypospadias, Long eyelashes, Worm... |
ORPHA:2863 |
Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Abnormal... |
OMIM:616362 |
Trisomy 13 |
|
Abnormal eyelash morphology, Cryptorchidism, Postaxial hand polydactyly, Abnormality of the urete... |
ORPHA:3378 |
Dysplasia Epiphysealis Hemimelica |
|
Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiff... |
ORPHA:1822 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Short foot, Brachydactyly, Highly arched eyebrow, Short palm |
OMIM:618522 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, E... |
ORPHA:2869 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... |
ORPHA:2916 |
Autosomal Dominant Omodysplasia |
|
Bifid scrotum, Short humerus, Hypoplasia of penis, Rhizomelia, Micrognathia, Elbow dislocation, C... |
ORPHA:93328 |
Scalp Defects-Postaxial Polydactyly Syndrome |
|
Sparse scalp hair, Postaxial polydactyly type A |
ORPHA:1003 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Sparse eyelashes, Craniosynostosis, Micrognathia, Sparse... |
OMIM:250410 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... |
OMIM:215045 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, Single transve... |
OMIM:618143 |
Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Adrenal hyperplasia, Flexion contracture, Femoral bowing, Abnormal ovarian mo... |
ORPHA:95699 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Hypoplasia of the ulna, Radial deviati... |
OMIM:218600 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Micromelia, Trapezoidal vertebral body, Short phalanx of finger, Brachydactyly |
OMIM:600092 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Postaxial polydactyly |
ORPHA:544254 |
Nievergelt Syndrome |
|
Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar... |
OMIM:163400 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Single transverse palmar crease, Short nec... |
ORPHA:2332 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Short foot, Abnormal hand morphology, Small hand |
OMIM:300261 |
Intellectual Developmental Disorder, X-Linked 9 |
|
Short distal phalanx of finger |
OMIM:309549 |
Intellectual Disability, Wolff Type |
|
Microretrognathia, Camptodactyly of finger, Cryptorchidism, Delayed skeletal maturation, Limitati... |
ORPHA:3080 |
Lowry-Wood Syndrome |
|
Small for gestational age, Squared iliac bones, Elbow flexion contracture, Hip dislocation, Multi... |
OMIM:226960 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregular epiph... |
OMIM:612813 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal morphology of ulna, Abnormal metacarpal morphology |
ORPHA:2233 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delay... |
OMIM:620099 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... |
OMIM:304120 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Elbow contracture, Craniosynostosis, Tarsal synostosis, Multip... |
OMIM:178110 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... |
OMIM:619557 |
Aase-Smith Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abnormal hip bone... |
ORPHA:916 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Reduced bone mineral den... |
ORPHA:2911 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Limited elbow extension and supination, Ectopic kidney, Short thumb, Cryptorchidism... |
ORPHA:401935 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Scholte Syndrome |
|
Acromicria, Small hand, Patellar hypoplasia, Short foot, Micropenis, Decreased testicular size |
OMIM:300977 |
Dihydropyrimidinase Deficiency |
|
Short phalanx of finger, Talipes equinovarus |
OMIM:222748 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Absent nipple, Micrognathia, Missin... |
OMIM:200980 |
Waardenburg Syndrome, Type 3 |
|
Scapular winging, Camptodactyly of finger, Synophrys, Premature graying of hair, Cutaneous finger... |
OMIM:148820 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... |
ORPHA:79414 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increa... |
OMIM:256050 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormal hair morphology, Ab... |
ORPHA:3130 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Narrow palm... |
ORPHA:177910 |
Grange Syndrome |
|
Short palm, Syndactyly, Increased susceptibility to fractures |
ORPHA:79094 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Split hand |
ORPHA:168486 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... |
ORPHA:3429 |
3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme... |
ORPHA:2616 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Curly eyelashes, Cry... |
ORPHA:163654 |
Laron Syndrome |
|
Hypoplasia of penis, Micrognathia, Short toe, Abnormality of the elbow, Osteoarthritis, Brachydac... |
ORPHA:633 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Small for gestational age, Camptodactyly of finger, Short neck, Long fingers, Bul... |
ORPHA:1617 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Delayed skeletal matur... |
OMIM:608328 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Pes planus, Sandal gap, Hypospadias, Cryptorchidism, Small hand, Short foot, Hypogo... |
OMIM:300354 |
Maxillonasal Dysplasia, Binder Type |
|
Patchy distortion of vertebrae, Vertebral clefting, Short distal phalanx of finger |
OMIM:155050 |
Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor... |
ORPHA:137834 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Flexion contracture, Scoliosis |
OMIM:619091 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Delayed skeletal matur... |
ORPHA:1825 |
Cardiospondylocarpofacial Syndrome |
|
Short palm, Brachydactyly, Abnormal form of the vertebral bodies, Synostosis of carpal bones |
ORPHA:3238 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Craniosynostosis, Micrognathia, Absent thumb, Hypoplasia of the radius, B... |
ORPHA:96097 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Joint laxity, Microretrognathia, Joint dislocation, Short clavicles, Short 4th metacarpal |
OMIM:606220 |
Erythrokeratodermia Variabilis |
|
Alopecia, Tapered finger, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Abnormal ... |
ORPHA:317 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly, Cryptorchidism... |
OMIM:615849 |
Oslam Syndrome |
|
Clinodactyly, Radioulnar synostosis, Radial deviation of finger |
OMIM:165660 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, B... |
ORPHA:313892 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Micropenis, Cryptorchidism, Humero... |
OMIM:134780 |
Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Alopecia, Talipes, Abnormality of the lower limb, Absent toe, S... |
ORPHA:974 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Osteoarthritis, Abnormal fibula morphology, Genu valgum, Meta... |
ORPHA:85198 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones... |
ORPHA:166277 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Proteinuria, Supernumerary nipple, Short iliac bones, Glomerulonephritis, Metaphyseal... |
OMIM:614376 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius |
OMIM:179400 |
Joubert Syndrome 24 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus |
OMIM:616654 |
Marinesco-Sjögren Syndrome |
|
Short palm, External genital hypoplasia, Coxa valga, Avascular necrosis of the capital femoral ep... |
ORPHA:559 |
Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism affecting the phalange... |
ORPHA:710 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... |
OMIM:617137 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... |
OMIM:269250 |
Bardet-Biedl Syndrome 2 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Hypogonadism, External genital hypoplasia |
OMIM:615981 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Down-sloping shoulders, Synophrys, Joint hyperflexibility, Clinodactyly of the 5th finger, Brachy... |
ORPHA:1390 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Precocious puberty, Cryp... |
OMIM:620073 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Clinodactyly |
OMIM:300337 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis, Precocious puberty, Cryptorchidism, Synophrys, 2-3 toe syndactyly, Gon... |
ORPHA:3306 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Short foot, Widow's peak, Brachydactyly |
OMIM:266265 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Foot polydactyly |
ORPHA:2155 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Micrognathia, Short neck, Delayed skeletal maturation, Small hand, Abnormal fo... |
ORPHA:1787 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Clubbing o... |
ORPHA:2198 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Short palm, Rectal prolapse, Small hand, Narrow palate, Coronal craniosynostosis, Short foot, Cut... |
OMIM:235510 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Epiphyseal stippling, Talipes equinovarus, Arthrogryposis multiplex congenita, ... |
ORPHA:86822 |
Hypoglossia-Hypodactylia |
|
Adactyly, Microglossia, Split hand, Aglossia |
OMIM:103300 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Hypoplasi... |
ORPHA:1512 |
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Sparse scalp hair, Arachnodactyly, Micrognathia, Cone-shaped epiphysis, Joint hyperflexibility, P... |
ORPHA:2824 |
Roifman Syndrome |
|
Hip contracture, Brachydactyly, Epiphyseal dysplasia, Hypogonadotropic hypogonadism, Delayed prox... |
ORPHA:353298 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Short 5th metacarpal |
ORPHA:66518 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal shoulder morphology, Abnormality o... |
ORPHA:2345 |
Wilson-Turner Syndrome |
|
Pes planus, Hypogonadotropic hypogonadism, Tapered finger, Micrognathia, Cryptorchidism, Small ha... |
ORPHA:3459 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Syndactyly, Palmoplantar keratoderma |
OMIM:613576 |
Cocaine Embryofetopathy |
|
Short distal phalanx of finger |
ORPHA:1911 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Single transverse palmar crease, Micromelia, Accelerated skeletal maturation, ... |
OMIM:618870 |
Silver-Russell Syndrome 3 |
|
Syndactyly, Ambiguous genitalia, Unilateral cryptorchidism, Elbow contracture, Small hand, Antecu... |
OMIM:616489 |
Septooptic Dysplasia |
|
Anterior pituitary hypoplasia, Polydactyly, Decreased response to growth hormone stimulation test... |
OMIM:182230 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... |
OMIM:600373 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Micrognathia, Hypoplastic pubic bone, Hirsutism, Decreased calvarial ossification... |
OMIM:614592 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe s... |
OMIM:614099 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ... |
OMIM:601370 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Thickened Achilles tendon, Abno... |
ORPHA:85438 |
Vitamin K Antagonist Embryofetopathy |
|
Short neck, Myelomeningocele, Punctate vertebral calcifications, Epiphyseal stippling, Short dist... |
ORPHA:1914 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Short neck, Clinodactyly of the ... |
OMIM:201000 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Incr... |
OMIM:305620 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... |
ORPHA:420794 |
Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe, Ectopic kidney |
OMIM:181510 |
Adult Syndrome |
|
Sparse scalp hair, Toe syndactyly, Absent nipple, Fair hair, Sparse axillary hair, Split hand, Sp... |
OMIM:103285 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Hypopl... |
OMIM:263750 |
Opsismodysplasia |
|
Abnormally ossified vertebrae, Tapered finger, Joint stiffness, Delayed skeletal maturation, Squa... |
ORPHA:2746 |
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges |
|
Complete duplication of thumb phalanx, Shortening of all distal phalanges of the toes, Short 5th ... |
OMIM:106995 |
Nicolaides-Baraitser Syndrome |
|
Dry hair, Enlarged joints, Single transverse palmar crease, Short metatarsal, Low anterior hairli... |
OMIM:601358 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Thoracic kyphoscoliosis, Flexion contracture, Hip dislocation, Cutaneous finger syndactyly, Short... |
OMIM:203550 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
Weill-Marchesani Syndrome |
|
Short thumb, Limitation of joint mobility, Brachydactyly |
ORPHA:3449 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Slender long bone, Decreased calvarial ossification, Decreased bo... |
OMIM:618265 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Ulnar deviation of the hand, Flexion contracture, Hyperextensible hand joints, Short foot, Ankle ... |
OMIM:275900 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Nephrocalc... |
ORPHA:264450 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... |
OMIM:609813 |
Joubert Syndrome 15 |
|
Ambiguous genitalia, Micropenis, Preaxial polydactyly, Nephronophthisis |
OMIM:614464 |
Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Limitation of joint mobili... |
ORPHA:3265 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,... |
ORPHA:163966 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformi... |
OMIM:609128 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Alopec... |
OMIM:600785 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Anal stenosis, Toe syndactyly, Sandal gap, Abnormality of thumb ... |
ORPHA:235 |
Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
Joubert Syndrome 16 |
|
Polydactyly, Renal cyst, Nephronophthisis |
OMIM:614465 |
Ring Chromosome 6 Syndrome |
|
Short neck, Short distal phalanx of finger |
ORPHA:1448 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta... |
OMIM:224400 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Hand polydactyly, Abnormal 3rd finger morphology, External genital hypoplasia |
OMIM:249670 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Ureteral duplication, Micrognathia, Short metatarsal, Renal cyst, Nephronophthisis, C... |
OMIM:266920 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, M... |
OMIM:180860 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Micrognathia, Precocious puberty, Acromicria, Small hand, Short foot, Clinodactyly |
ORPHA:254525 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... |
OMIM:208500 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones... |
OMIM:258480 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Joint hyperflexibility, Macroorchidism, Br... |
ORPHA:776 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, 2-3 toe... |
OMIM:613573 |
Wiedemann-Steiner Syndrome |
|
Joint laxity, Pes planus, Sacral dimple, Tapered finger, Micrognathia, Contracture of the distal ... |
OMIM:605130 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cryptorchidism, Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Small scrotum, Bilateral single transverse palmar creases, Camptodactyly of ... |
ORPHA:2083 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Hypospadias, Tapered finger, Micrognathia, Long fingers, Short toe, ... |
OMIM:618659 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Alopecia totalis, Widely spaced toes, Mitten deformity, Clinodactyly of t... |
OMIM:609638 |
Osteogenesis Imperfecta, Type Xix |
|
Bowing of the arm, Rhizomelia, Bowing of the legs |
OMIM:301014 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Nar... |
ORPHA:508533 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Thick hair, Abnormal hair pattern, Micrognathia, Long eyelashes, Generalized h... |
ORPHA:1514 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Single transverse palmar crease, Unilateral cryptorchidism, Abnormal ... |
OMIM:206920 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Frontal balding, Synophrys, Primary amenorrhea, Hypoplasia of the uterus, Facial h... |
ORPHA:247768 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Bilateral cryptorchidis... |
OMIM:305400 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... |
OMIM:147891 |
Sclerosteosis 2 |
|
Cutaneous finger syndactyly, Short finger |
OMIM:614305 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short neck, Limita... |
ORPHA:2994 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal pelvic girdle bone morphology, Carpal bone hypoplasia |
OMIM:601162 |
Weill-Marchesani Syndrome 3 |
|
Joint stiffness, Brachydactyly |
OMIM:614819 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Knee flexion contracture, Abnormal calc... |
OMIM:271665 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyl... |
OMIM:107480 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Pes cavus, Abnormal renal physiology |
OMIM:266500 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Brittle hair, Osteopathia striata, Short metata... |
OMIM:305600 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Enlarged joints, Tapered finger, Short neck, Flattened epiphysis, Genu valg... |
OMIM:607131 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux |
OMIM:235750 |
Qazi-Markouizos Syndrome |
|
Cryptorchidism, Delayed ossification of carpal bones, Tapered finger |
ORPHA:3010 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Clitoral hypertrophy, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormali... |
ORPHA:313855 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Prominent metopic ridge, Overlapping toe, Highly arched eyebrow, Postaxial polydactyly, Tapered f... |
OMIM:613792 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Osteolysis, Short distal phalanx of finger |
ORPHA:2776 |
Hall-Riggs Syndrome |
|
Joint stiffness, Delayed skeletal maturation, Platyspondyly, Abnormal epiphysis morphology, Scoli... |
ORPHA:2107 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Slow-growing hair, Metatarsus valgus, ... |
ORPHA:3082 |
Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Hypoplastic frontal sinuses, Anterior basal encephalocele, Pectoral m... |
OMIM:136760 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Sacral d... |
ORPHA:1327 |
Acrofrontofacionasal Dysostosis |
|
Bifid scrotum, Hypospadias, Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, S... |
ORPHA:1784 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Cryptorchidism, Synophrys, Proximal renal tubular acidosis, Postaxial polydactyly |
OMIM:615824 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Alopecia totalis, Talipes, Absent thumb, Aplasia/Hypoplasia of... |
ORPHA:1234 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Hypopla... |
OMIM:615349 |
Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand ... |
ORPHA:1553 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Small for gestational age, Proximal placement of thumb, Abnormal thumb morphology, ... |
ORPHA:94065 |
Anus, Imperforate |
|
Anal atresia |
OMIM:207500 |
Orofaciodigital Syndrome Xv |
|
Postaxial hand polydactyly, Broad hallux, Hydronephrosis, Duplication of phalanx of hallux |
OMIM:617127 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Abnormal eyelas... |
ORPHA:1794 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Sparse eyebrow, 3-4 finger syndactyly, 2-3 toe syndactyly |
OMIM:600906 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, 11 pairs of ribs, Sandal gap, Short toe, Delayed skeletal maturation, Clinodactyly of... |
OMIM:617877 |
Arthrogryposis, Distal, Type 5D |
|
Congenital hip dislocation, Limited elbow movement, Highly arched eyebrow, Limited knee flexion, ... |
OMIM:615065 |
Filippi Syndrome |
|
Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, Cutaneous syndactyly, Finger... |
OMIM:272440 |
Non-Distal Deletion 10Q |
|
Brachydactyly, Synophrys, Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single t... |
ORPHA:1581 |
Pentasomy X |
|
Camptodactyly of finger, Micrognathia, Small hand, Short foot, Radioulnar synostosis, Hip dysplas... |
ORPHA:11 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, Cutaneous syndactyly, Renal hypo... |
OMIM:236500 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619672 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Malabsorption, Aplasia/Hypoplasia of t... |
ORPHA:1225 |
Holzgreve Syndrome |
|
Hand polydactyly, Renal hypoplasia |
OMIM:236110 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Mesomelia, Broad thumb, Brachydactyly |
ORPHA:171866 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Joint stiffness, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebra... |
ORPHA:1005 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe... |
OMIM:619471 |
Pitt-Hopkins Syndrome |
|
Pes planus, Single transverse palmar crease, Supernumerary nipple, Tapered finger, Cryptorchidism... |
ORPHA:2896 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Polydactyly |
OMIM:602501 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Joint stiffness, Micrognathia, Short neck, Adduc... |
ORPHA:1147 |
Omodysplasia 2 |
|
Short humerus, Dyspareunia, Hypospadias, Micrognathia, Cryptorchidism, Uterus didelphys, Fibular ... |
OMIM:164745 |
3P25.3 Microdeletion Syndrome |
|
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... |
ORPHA:435638 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Joint stiffness, White hair, Abnormal finger morphology, Cutaneous finge... |
ORPHA:896 |
Acrocallosal Syndrome |
|
Cryptorchidism, Postaxial hand polydactyly, Hypospadias, Triphalangeal thumb |
ORPHA:36 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... |
OMIM:217085 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Ectopic anus, Cleft palate, Aplasia/Hypop... |
ORPHA:94066 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Multiple joint contractures, Broad hallux, Single transverse palmar crease, Hypospadi... |
OMIM:305450 |
Rin2 Syndrome |
|
Sparse scalp hair, Pes planus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, C... |
ORPHA:217335 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Micrognathia, Cryptorchidism, Camptodactyly, Micropenis, Absent pal... |
OMIM:614230 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Micrognathia, Short distal phalanx of finger, Tapered finger |
OMIM:181180 |
Short Stature With Microcephaly And Distinctive Facies |
|
Osteopenia, Syndactyly, Brachydactyly, Microretrognathia, Small for gestational age, Proximal pla... |
OMIM:615789 |
Charcot-Marie-Tooth Disease Type 1E |
|
Hand muscle atrophy, Hyporeflexia of lower limbs, Peroneal muscle weakness, Equinovarus deformity... |
ORPHA:90658 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Micrognathia, Small hand, Obesity, Short foot, Scoliosis, Clinodactyly, Joint hypermobility |
ORPHA:254531 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Decreased respon... |
ORPHA:1896 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Delayed skeletal maturation, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Woods Syndrome |
|
Single transverse palmar crease, Supernumerary nipple, 3-4 finger cutaneous syndactyly, Frontal h... |
OMIM:615236 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... |
OMIM:181450 |
Acrofrontofacionasal Dysostosis 2 |
|
Bifid scrotum, Syndactyly, Broad hallux, Hypospadias, Widow's peak, Hand polydactyly, Shawl scrot... |
OMIM:239710 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int... |
OMIM:271510 |
Nance-Horan Syndrome |
|
Short metacarpal |
ORPHA:627 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... |
ORPHA:251992 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Increased bone mineral density, Rhizomelia, Bowing of the long bones, Aplastic ... |
ORPHA:50945 |
Adult Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse scalp hair, Fine hair, Split f... |
ORPHA:978 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Small for gestational age, Brachydactyly |
OMIM:610498 |
Shashi-Pena Syndrome |
|
Short metacarpal, Highly arched eyebrow, Unilateral renal agenesis, Synophrys, Osteoporosis, Deep... |
OMIM:617190 |
9Q21.13 Microdeletion Syndrome |
|
Talipes, Craniosynostosis, Cryptorchidism, Hip dysplasia, Polydactyly, Hydronephrosis |
ORPHA:531151 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Tapered finger, Short toe, Cleft palate, Anteriorly placed anus, Delayed o... |
OMIM:239300 |
Al-Raqad Syndrome |
|
Joint laxity, Sandal gap, Brachydactyly |
OMIM:616459 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis |
ORPHA:2010 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Nail dystrophy |
OMIM:226700 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... |
OMIM:619879 |
Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia |
OMIM:615665 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Knee flexion contract... |
OMIM:601559 |
Alg6-Cdg |
|
Failure to thrive, Scoliosis, Shortening of all distal phalanges of the fingers, Brachydactyly |
ORPHA:79320 |
Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste... |
ORPHA:53 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Pes planus, Syndactyly, Distal lower limb muscle weakness, Scoliosis |
OMIM:615284 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia, Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Premature ovarian insufficienc... |
ORPHA:221008 |
Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, P... |
ORPHA:192 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Sparse scalp hair, Cryptorchidism, Abnormality of the elbow, Low posterior hairline, Aplasia/Hypo... |
ORPHA:2701 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Cryptorchidism, Split hand, Clubbing, Shawl scrotum, Micropenis |
OMIM:600460 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
Radial Aplasia, X-Linked |
|
Absent radius, Anal atresia |
OMIM:312190 |
Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short foot, Short l... |
OMIM:231050 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Brachydactyly, Metaphyseal dyspl... |
ORPHA:3219 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Failure to thrive in infancy, Polydactyly, Decreased body weight, Clinodactyly... |
ORPHA:313781 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Hydrometrocolpos, Cystic renal dysplasia, Postaxial foot... |
OMIM:615989 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m... |
OMIM:300863 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Highly arched eyebrow, Cryptorchidism, Low anterior hairline, 2-3 toe synd... |
ORPHA:404440 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Epiphyseal stippling, Abnorm... |
OMIM:302960 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Patellar hypoplasia, Sparse hair, Short phalanx of finger, Genu va... |
ORPHA:221016 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Single transverse palmar crease, Kyph... |
OMIM:617425 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly... |
OMIM:619269 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia, Postaxial hand polydactyly, Postaxial foot polydactyly, Bile duct p... |
OMIM:607361 |
Refsum Disease |
|
Short metacarpal, Renal insufficiency, Abnormal foot morphology, Hammertoe, Abnormal epiphysis mo... |
ORPHA:773 |
Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Pes planus, Hypospadias, Micrognathia, Cryptorchidism, Fine hair, Micr... |
OMIM:300978 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Renal hypoplasia, Brachydactyly |
OMIM:616589 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Hypospadias, Short hallux, Supernumerary nipple, Abn... |
ORPHA:3224 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception |
OMIM:112200 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Hallux valgus, Thoracic scoliosis, Pes planus, Micrognathia, Short neck, Cryptorchidi... |
OMIM:618000 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Patchy reduction of bone m... |
ORPHA:221120 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Clinodactyly, Short finger |
OMIM:300049 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,... |
ORPHA:570 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Mohr Syndrome |
|
Syndactyly, Wormian bones, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, F... |
OMIM:252100 |
Mucolipidosis Ii Alpha/Beta |
|
Hypoplastic scapulae, Craniosynostosis, Coxa valga, Micrognathia, Hypoplasia of the odontoid proc... |
OMIM:252500 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Umbilical hernia, Abnormal femo... |
ORPHA:3218 |
Osteogenesis Imperfecta, Type Xxi |
|
Coxa valga, Bowing of the legs, Coxa vara, Wormian bones, Bowing of the arm |
OMIM:619131 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Joint stiffness, Micrognathia, Hyperlordosis, Vertebr... |
ORPHA:1323 |
Cardioacrofacial Dysplasia 2 |
|
Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot... |
OMIM:619143 |
Muenke Syndrome |
|
Hypopigmentation of hair, Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpa... |
ORPHA:53271 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Micrognathia, Clinodactyly of the 5th finger, Hypoplastic female external ge... |
ORPHA:1507 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Trichorhinophalangeal Syndrome Type 2 |
|
Joint dislocation, Sparse scalp hair, Bilateral single transverse palmar creases, Talipes, Avascu... |
ORPHA:502 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Neoplasm of the rectum, Neoplasm of th... |
ORPHA:424016 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... |
OMIM:301099 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Dislocated radial head, Joint laxit... |
OMIM:102500 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Coxa valga, Delayed skeletal maturation, Hypoplastic vertebral bodies, Clinodac... |
ORPHA:2163 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Ambiguous genitalia, Enlarged kidney |
OMIM:613885 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Renal corticomedullary cysts, Postaxial polydactyly |
OMIM:219730 |
Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... |
ORPHA:1190 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Ulnar deviation of the wrist, Elbow contracture, Annular pancreas, 2-3 toe syndactyly... |
OMIM:618162 |
Gracile Bone Dysplasia |
|
Flared metaphysis, Slender long bone, Micropenis, Decreased skull ossification, Brachydactyly |
OMIM:602361 |
Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Pr... |
OMIM:277170 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Accelerated skeletal maturation, Metaphyseal chondrodysp... |
ORPHA:93317 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Hypospadias, Talipes, Abnormal tibia morphology, Split hand, Aplasia/Hypoplas... |
ORPHA:1335 |
Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly, Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin eyebrow, Spa... |
ORPHA:1433 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... |
OMIM:144750 |
Specific Granule Deficiency 2 |
|
Osteopenia, Sandal gap, Hirsutism, Brachydactyly |
OMIM:617475 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Brachydactyly, Hypospadias, Abnormal hair pattern, Cryptorc... |
ORPHA:1786 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Hydronephrosis |
ORPHA:251046 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Bilateral single transverse palmar creases, Abnormal hair pattern, Abnormality of the ureter, Pol... |
ORPHA:1770 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Alopecia, Toe syndactyly, Multicystic kidney dysplasia, Abnormal palmar dermat... |
ORPHA:2092 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Premature thelarche, Abnormal hand morphology, Sclerotic cranial sutures... |
ORPHA:371428 |
Trisomy 8Q |
|
Hypoplasia of penis, Camptodactyly of finger, Joint stiffness, Micrognathia, Cryptorchidism, Bone... |
ORPHA:1752 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Small hand, Short foot, Hypogonadism, S... |
OMIM:300869 |
Grange Syndrome |
|
Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Decr... |
OMIM:602531 |
Hartsfield Syndrome |
|
Syndactyly, Hypospadias, Craniosynostosis, Cryptorchidism, Gonadotropin deficiency, Ectrodactyly,... |
OMIM:615465 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
Tenosynovial Giant Cell Tumor |
|
Abnormal hip joint morphology, Abnormality of the knee, Joint stiffness, Polyarticular arthropath... |
ORPHA:66627 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o... |
ORPHA:93324 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Highly arc... |
ORPHA:783 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Bowing of the long bones, Multicystic kidney dysplasia, Micromelia... |
ORPHA:1318 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Hemivertebrae, Obesity, Abnormal form of the vertebral bodies, Scoliosis, Brachydactyly |
ORPHA:2180 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys... |
OMIM:610442 |
Isochromosomy Yp |
|
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility |
ORPHA:98797 |
Endove Syndrome, Limb-Brain Type |
|
Joint laxity, Toe syndactyly, Osteomyelitis, Aplasia of the 3rd finger, Umbilical hernia, Triangu... |
OMIM:619218 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility |
OMIM:617593 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Cryptorch... |
ORPHA:2473 |
Blepharocheilodontic Syndrome 2 |
|
Distichiasis, Cutaneous syndactyly |
OMIM:617681 |
Kuskokwim Syndrome |
|
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella |
ORPHA:1149 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Osteoporosis, Camptodactyly |
OMIM:616006 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Anal atresia, Genu valgum |
ORPHA:1381 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Micrognathia, Bowing of the legs, Wormian bones, Bowing ... |
OMIM:613849 |
Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili... |
ORPHA:2655 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Lowe-Kohn-Cohen Syndrome |
|
Anorectal anomaly, Anal atresia |
ORPHA:2408 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Bile duct proliferation, Polyda... |
OMIM:603194 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... |
OMIM:604292 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... |
OMIM:209900 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Joint laxity, Pes planus, Calcaneovalgus deformity, Genu recurvatum |
OMIM:225320 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly, Knee flexion contracture |
OMIM:603387 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Camptodactyly of finger, Micromelia, Osteomalacia, Recurrent fractures, Joint stiffne... |
ORPHA:2176 |
Larsen-Like Syndrome |
|
Joint laxity, Joint dislocation, Talipes equinovarus, Radial deviation of the 4th finger, Clinoda... |
OMIM:608545 |
Retinitis Pigmentosa 51 |
|
Polydactyly, Obesity |
OMIM:613464 |
Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Renal ... |
OMIM:146510 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Anal atresia |
ORPHA:3469 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Epiphyseal stippling, Abnormality of the vertebral column, Hypogonadism, Short distal phalanx of ... |
OMIM:302950 |
Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Renal cyst |
OMIM:263630 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Joint dislocation, Single transverse ... |
OMIM:616145 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Delayed skeletal maturation, Micrognathia, Short distal phalanx of finger, Ulnar deviation of finger |
ORPHA:2013 |
Pycnodysostosis |
|
Increased bone mineral density, Persistent open anterior fontanelle, Aplastic clavicle, Micrognat... |
OMIM:265800 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, External genital hypoplasia, Micrognathia, Generalized joint laxity, Tibial bowing, C... |
ORPHA:251028 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Hip contracture, Micrognathia, Metatarsus adductus, Calcaneovalgus deformity, E... |
OMIM:616266 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Spina bifida, Palmar pits, Plantar pits... |
OMIM:109400 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Hand polydactyly |
OMIM:235740 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platys... |
ORPHA:93274 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf m... |
OMIM:606612 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
Pfeiffer Syndrome |
|
Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
Tarsal-Carpal Coalition Syndrome |
|
Abnormality of the ankle, Tarsal synostosis |
ORPHA:1412 |
Keipert Syndrome |
|
Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Broad... |
ORPHA:2662 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t... |
ORPHA:3138 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Coffin-Siris Syndrome 2 |
|
Sparse scalp hair, Thick eyebrow, Sandal gap, Cryptorchidism, Low anterior hairline, Long eyelash... |
OMIM:614607 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Small scrotum, Anterior pituitary hypoplasia, Micrognathia, Cr... |
ORPHA:264200 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Brachydactyly, Thick hair, Micrognathia, Synophrys, Hip dysplasia, Long eyelashes, Horizontal eye... |
OMIM:618381 |
Three M Syndrome 3 |
|
Slender long bone, Hip dysplasia, Clinodactyly of the 5th finger, Prominent calcaneus, Joint hype... |
OMIM:614205 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Highly arched eyebrow, ... |
ORPHA:178303 |
Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Thick eyebrow, Single transverse palmar crease, Highly arched eyebrow, Frontal... |
OMIM:618950 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Abnormal eyelash morphology, Cryptorchidism, Low posterior hairline, Joint hyp... |
ORPHA:1252 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Abnormal hand morphology, Small hand, Azoospermia, Broad finger, ... |
OMIM:300845 |
White Forelock With Malformations |
|
Finger syndactyly, Delayed skeletal maturation, Joint hyperflexibility, Clinodactyly of the 5th f... |
ORPHA:2475 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly, Hypospadias, Thick eyebrow |
OMIM:619736 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Decreased response to growth hormone stimulation test, Tapered finger, Bilateral c... |
ORPHA:485405 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Genu val... |
OMIM:615630 |
Mucopolysaccharidosis Type 1 |
|
Joint dislocation, Joint stiffness, Split hand, Low anterior hairline, Mucopolysacchariduria, Abn... |
ORPHA:579 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Brachydactyly, Increased carrying angle, Nephropathy, Hy... |
OMIM:247410 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Sandal gap, Single transverse palmar crease, Morgagni diaphr... |
OMIM:613177 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Hypospadias, Single transverse palmar crease, Ankle flexion contracture, Taper... |
ORPHA:435938 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S... |
OMIM:620072 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... |
OMIM:216340 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Cryptorchidism, Squared iliac bones, Preaxial ... |
OMIM:616300 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Sandal gap, Hypospadias, Micrognathia, Precocious puberty... |
ORPHA:813 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hip dislocation, Postaxial foot polydacty... |
OMIM:241800 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Abnormal sacrum morphology, Brachydactyly, Abnormal form of the vertebral bodies, Abnormal metaca... |
ORPHA:93262 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, Short p... |
ORPHA:59315 |
Radial-Renal Syndrome |
|
Absent radius, Absent thumb |
OMIM:179280 |
Fanconi Anemia, Complementation Group W |
|
Abnormal radial ray morphology, Hypoplasia of the radius, Absent thumb |
OMIM:617784 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Cryptorchidism, 2-3 finger syndactyly |
ORPHA:1338 |
Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplas... |
ORPHA:110 |
Mucopolysaccharidosis, Type Ii |
|
Heparan sulfate excretion in urine, Split hand, Flexion contracture, Dermatan sulfate excretion i... |
OMIM:309900 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi... |
OMIM:210710 |
Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly, Anal atresia, Bilateral cleft lip and palate |
ORPHA:1997 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Persistent open anterior fontanelle, Wo... |
ORPHA:1798 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Cra... |
OMIM:251230 |
Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Bil... |
OMIM:611561 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Thoracic kyphosis, Clinodactyly, Pes cavus |
OMIM:619092 |
Jansen-De Vries Syndrome |
|
Short foot, Hyperlordosis, Small hand, Brachydactyly |
OMIM:617450 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow con... |
OMIM:617201 |
Hydrolethalus Syndrome 2 |
|
Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:614120 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Micrognathia, Generalized osteosclerosis, Hypoplastic iliac ... |
ORPHA:763 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Cryptorchidism, Low posterior... |
OMIM:300963 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Cryptorchidism, Postaxial hand polydacty... |
ORPHA:2075 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Supernumerary nipple, Cryptorchidism, Limitation of joint ... |
ORPHA:3255 |
Lenz-Majewski Hyperostotic Dwarfism |
|
External genital hypoplasia, Epispadias, Abnormal finger morphology, Symphalangism affecting the ... |
ORPHA:2658 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Alopecia, Rocker bottom foot, Proximal placement of thumb, Hypertrichosis, Hip... |
OMIM:619762 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Brachydactyly, Oligosacchariduria, Talipes equinovarus, Camptodactyly, Clinodactyly, Hypertrichosis |
OMIM:616354 |
Temple-Baraitser Syndrome |
|
Broad hallux, Proximal placement of thumb, Adducted thumb, Broad thumb, Pseudoepiphysis of the th... |
OMIM:611816 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... |
ORPHA:3186 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Bowed humerus, Micrognathia, Bilateral talipes equinovarus, Broa... |
OMIM:609465 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300554 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Single transverse palmar crease, Micrognathia, Camptodactyly, Clinodactyly, Brachydactyly |
OMIM:613604 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Decreased testicular size, Micrognathia, Cryptorchidism, Flexion contracture, Short foot, Talipes... |
OMIM:300534 |
Oliver Syndrome |
|
Camptodactyly of finger, Supernumerary nipple, Short toe, Postaxial hand polydactyly, Elbow flexi... |
ORPHA:2920 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Talipes calcaneovalgu... |
OMIM:265000 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Nephropathy, Short distal phalanx of finger, Generalized... |
ORPHA:1563 |
16P13.11 Microduplication Syndrome |
|
Pes planus, Arachnodactyly, Craniosynostosis, Joint hyperflexibility, Hand polydactyly |
ORPHA:261243 |
Chitayat Syndrome |
|
Hallux valgus, Tracheomalacia, Brachydactyly |
OMIM:617180 |
Craniosynostosis 2 |
|
Craniosynostosis, Unicoronal synostosis, Triphalangeal thumb, Metopic synostosis, Wormian bones, ... |
OMIM:604757 |
Cleidocranial Dysplasia |
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Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Recurrent fractures, Tapered finger,... |
ORPHA:1452 |
Mucopolysaccharidosis, Type Vi |
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Epiphyseal dysplasia, Joint stiffness, Hypoplasia of the odontoid process, Metaphyseal widening, ... |
OMIM:253200 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, Micrognathia, Calcaneovalg... |
ORPHA:3078 |
Feingold Syndrome |
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Hallux valgus, Toe syndactyly, Micrognathia, Deviation of the 2nd finger, Clinodactyly of the 5th... |
ORPHA:1305 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
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Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Sparse eyebrow, ... |
ORPHA:73246 |
Acrogeria |
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Micrognathia, Small hand, Fine hair, Short foot, Joint hyperflexibility |
ORPHA:2500 |
Peters-Plus Syndrome |
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Hypoplasia of the vagina, Ureteral duplication, Single transverse palmar crease, Limited elbow mo... |
OMIM:261540 |
17Q12 Microduplication Syndrome |
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Finger syndactyly, Synophrys, Toe syndactyly |
ORPHA:261272 |
Pili Torti-Onychodysplasia Syndrome |
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Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cutaneous syndactyly, Palmoplantar kera... |
ORPHA:2890 |
Boomerang Dysplasia |
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Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Metopic synostosis, Hypoplasia of the ulna, Ankle clonus, Lambdoidal craniosynostosis |
OMIM:615398 |
Bartsocas-Papas Syndrome 2 |
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2-5 finger cutaneous syndactyly, Micrognathia, Small hand, Antecubital pterygium, Popliteal ptery... |
OMIM:619339 |
3Mc Syndrome 3 |
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Bifid scrotum, Highly arched eyebrow, Cryptorchidism, Preaxial polydactyly, Horseshoe kidney, Mic... |
OMIM:248340 |
Robinow Syndrome, Autosomal Dominant 2 |
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Brachydactyly, Micrognathia, Cryptorchidism, Partial duplication of thumb phalanx, Partial duplic... |
OMIM:616331 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Aplasia/Hypoplasia of the radius, Ectopic anus, Cleft palate |
ORPHA:2476 |
Spermatogenic Failure 29 |
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Non-obstructive azoospermia, Male infertility, Immotile sperm |
OMIM:618091 |
Ring Chromosome 12 Syndrome |
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Syndactyly, Cryptorchidism, Abnormal 5th finger morphology, Glandular hypospadias, Uterine leiomy... |
ORPHA:1439 |
Aredyld Syndrome |
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Craniofacial hyperostosis, Abnormality of the ureter, Abnormal pelvic girdle bone morphology, Spa... |
ORPHA:1133 |
Spermatogenic Failure 54 |
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Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 48 |
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Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Kbg Syndrome |
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Vertebral fusion, Syndactyly, Single transverse palmar crease, Short neck, Cryptorchidism, Delaye... |
OMIM:148050 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
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Preaxial polydactyly |
ORPHA:2921 |
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
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Ectopic anus, Craniosynostosis |
ORPHA:2866 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
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Abnormality of the knee, Congenital diaphragmatic hernia, Abnormal femur morphology, Abnormal fib... |
ORPHA:2063 |
Orofaciodigital Syndrome V |
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Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Horsesh... |
OMIM:174300 |
Spermatogenic Failure 80 |
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Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
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Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
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Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
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Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Arteriosclerosis, Severe Juvenile |
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Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger |
OMIM:208060 |
Acrofacial Dysostosis, Weyers Type |
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Postaxial hand polydactyly, Small hand, Nail dystrophy, Clinodactyly of the 5th finger, Overlappi... |
ORPHA:952 |
Ellis-Van Creveld Syndrome |
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Hypospadias, Capitate-hamate fusion, Postaxial hand polydactyly, Epispadias, Cryptorchidism, Genu... |
OMIM:225500 |
Alagille Syndrome |
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Clinodactyly of the 5th finger, Hypoplasia of the ulna, Micrognathia, Short distal phalanx of finger |
ORPHA:52 |
Sponastrime Dysplasia |
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Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri... |
ORPHA:93357 |
Anus, Imperforate |
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Ectopic anus, Anal atresia |
OMIM:301800 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
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Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co... |
OMIM:616007 |
Tarp Syndrome |
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Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Ab... |
ORPHA:2886 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
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Osteopenia, Joint laxity, Delayed closure of the anterior fontanelle, Micrognathia, Short toe, Re... |
OMIM:225410 |
Robinow Syndrome, Autosomal Recessive 2 |
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Broad hallux, Sandal gap, Micrognathia, Mesomelia, Long eyelashes, Camptodactyly, Prominent finge... |
OMIM:618529 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Sandal gap, Micrognathia, 2-3 toe syndactyly, Renal hypoplasia, Small thenar eminence, Joint cont... |
OMIM:618914 |
Orofaciodigital Syndrome X |
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Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Temtamy Syndrome |
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Pes planus, Highly arched eyebrow, Micrognathia, Hip dislocation, Short 2nd toe, Talipes equinova... |
OMIM:218340 |
Aromatase Deficiency |
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Osteopenia, Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Femal... |
ORPHA:91 |
Luscan-Lumish Syndrome |
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Irregular menstruation, Advanced ossification of carpal bones, Polycystic ovaries, High anterior ... |
OMIM:616831 |
Spermatogenic Failure 42 |
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Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Osteopenia, Joint dislocation, Equinus calcaneus, Micrognathia, Knee dislocation, Shoulder disloc... |
ORPHA:536532 |
Spermatogenic Failure 39 |
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Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Blepharocheilodontic Syndrome 1 |
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High anterior hairline, Cutaneous syndactyly, Sparse hair, Clinodactyly, Distichiasis |
OMIM:119580 |
Contractural Arachnodactyly, Congenital |
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Osteopenia, Micrognathia, Short neck, Knee flexion contracture, Wrist flexion contracture, Arachn... |
OMIM:121050 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
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11 pairs of ribs, Bicoronal synostosis, Brittle hair, Hypospadias, Joint stiffness, Short long bo... |
OMIM:619184 |
Maxillonasal Dysplasia |
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Aplasia/Hypoplasia of the distal phalanges of the toes, Vertebral clefting, Scoliosis, Patchy dis... |
ORPHA:1248 |
Distal Duplication 15Q |
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Congenital muscular torticollis, Arachnodactyly, Camptodactyly of finger, High palate, Anal atresia |
ORPHA:1707 |
Spermatogenic Failure 63 |
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Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Orofaciodigital Syndrome Type 4 |
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Joint dislocation, Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Micrognath... |
ORPHA:2753 |
Melnick-Needles Syndrome |
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Craniofacial hyperostosis, Bowing of the long bones, Delayed cranial suture closure, Coxa valga, ... |
ORPHA:2484 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
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Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Cervical C2/C3 vertebral ... |
OMIM:616549 |
Orthostatic Hypotension 1 |
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Joint hypermobility, Reduced circulating prolactin concentration, Retrograde ejaculation, Nocturi... |
OMIM:223360 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Micrognathia, Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of t... |
OMIM:608612 |
Cystic Fibrosis |
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Meconium ileus, Rectal prolapse, Ileus, Clubbing of fingers, Steatorrhea |
OMIM:219700 |
Floating-Harbor Syndrome |
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Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clinodactyly of ... |
OMIM:136140 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Single transverse palma... |
OMIM:303600 |
Spermatogenic Failure 22 |
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Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Short metacarpal, Brachydactyly, Rectal prolapse, Short metatarsal, High palate, Gastroesophageal... |
OMIM:617157 |
Long Qt Syndrome 8 |
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Syndactyly |
OMIM:618447 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
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Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Short fourth metatarsal, Single transverse palmar crease, Anterior pituitary hypoplasia, Microgna... |
OMIM:619841 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
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Postaxial hand polydactyly |
ORPHA:83473 |
D-Bifunctional Protein Deficiency |
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Osteopenia, Micrognathia, Split hand, Renal cyst, Hammertoe, Bile duct proliferation, Talipes equ... |
OMIM:261515 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Renal insufficiency, Abnormal acetabulum morphology, Hypospadias, Postaxial polydactyly, Supernum... |
ORPHA:397715 |
Congenital Disorder Of Glycosylation, Type Iil |
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Unilateral renal agenesis, Hip dysplasia, Proximal tubulopathy, Postaxial polydactyly |
OMIM:614576 |
Frank-Ter Haar Syndrome |
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Osteopenia, Bowing of the long bones, Wormian bones, Anterior concavity of thoracic vertebrae, Ky... |
OMIM:249420 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
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Joint laxity, Hip contracture, Brachydactyly, Microretrognathia, Overlapping toe, Rocker bottom f... |
ORPHA:488642 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
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Joint laxity, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hip... |
OMIM:300968 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Vertebral fusion, Syndactyly, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Hypere... |
OMIM:227330 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
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Micrognathia, Short neck, Brachydactyly |
ORPHA:436245 |
Craniofrontonasal Syndrome |
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Joint laxity, Curly hair, Toe syndactyly, Broad hallux, Down-sloping shoulders, Hypospadias, Unil... |
OMIM:304110 |
Acalvaria |
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Postaxial hand polydactyly |
ORPHA:945 |
Fanconi Anemia, Complementation Group I |
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Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Decrea... |
OMIM:609053 |
Spermatogenic Failure 47 |
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Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
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Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf muscle hypertrophy, ... |
OMIM:607155 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Finger syndactyly, Toe syndactyly, Joint hyperflexibility, Hand polydactyly, Foot polydactyly, Fa... |
ORPHA:60040 |
Spondylocostal Dysostosis 5 |
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Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Scoliosis, Butterfly ve... |
OMIM:122600 |
X Small Rings |
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Joint laxity, Toe syndactyly, Premature ovarian insufficiency, Tapered finger, Osteoporosis, 2-3 ... |
ORPHA:96201 |
X-Linked Intellectual Disability, Hedera Type |
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Pes planus, Calcaneovalgus deformity, Absent Achilles reflex, Hyporeflexia of upper limbs, Hypore... |
ORPHA:93952 |
Mosaic Trisomy 14 |
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Camptodactyly of finger, Cleft palate, Ectopic anus, High palate, Bilateral single transverse pal... |
ORPHA:1703 |
Caudal Regression Syndrome |
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Joint stiffness, Missing ribs, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia... |
ORPHA:3027 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Micrognathia, Kyphosis, Fused cervical vertebrae, Abnormal hip bone mo... |
ORPHA:2522 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... |
OMIM:129900 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
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Syndactyly, Hypospadias, Proximal placement of thumb, Micrognathia, Cryptorchidism, Short palm, T... |
OMIM:217980 |
19Q13.11 Microdeletion Syndrome |
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Bifid scrotum, Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Hypospadias, Supern... |
ORPHA:217346 |
Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Long eyebrows, Widow's peak, Long eyelashes, Acetabular dysplasia, Broad thumb,... |
OMIM:201180 |
Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Sym... |
ORPHA:46627 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Laterally extended eyebrow, Short 2nd finger, Sandal gap, Broad hallux, Highly arched eyebrow, Sp... |
OMIM:600987 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the radius, Aplasia/Hypoplasia of th... |
ORPHA:245 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Proximal placement of thumb, Limited elbow movement, Micrognathi... |
OMIM:610759 |
Coffin-Siris Syndrome 6 |
|
Kyphoscoliosis, Micrognathia, Wormian bones, Clinodactyly, Brachydactyly |
OMIM:617808 |
Fanconi Anemia, Complementation Group D1 |
|
Short thumb, Anal atresia |
OMIM:605724 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Neoplasm of the pancreas, Alopecia, Multiple joint contractures, Hypospadias, Hypergo... |
ORPHA:2959 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Abnormality of the cervical spine, Ankle swelling,... |
ORPHA:85408 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Bifid scrotum, Finger syndactyly, Sparse scalp hair, Hypospadias, Sparse eyebrow |
ORPHA:66629 |
Joubert Syndrome 32 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:617757 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Trisomy 9P |
|
Sacral dimple, Bilateral single transverse palmar creases, Short neck, Kyphosis, Scoliosis, Clino... |
ORPHA:236 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Abnormal eyelash morphology, Cryptorchidism, Postaxial hand polydactyly, Synophry... |
ORPHA:1702 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Talipes calcaneovalgus, Finger sy... |
ORPHA:818 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Delayed skeletal maturation, Short middle phalanx of finger, Rounded middle phalanx of finger |
ORPHA:2158 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... |
ORPHA:3404 |
Nance-Horan Syndrome |
|
Short phalanx of finger, Broad finger |
OMIM:302350 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thumb, Preaxial hand ... |
ORPHA:1120 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Limitation o... |
ORPHA:93259 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Postaxial polydactyly, Septate vagina, Preaxial polydactyly, Hypoplastic pubi... |
OMIM:617925 |
Microcephaly-Capillary Malformation Syndrome |
|
Small for gestational age, Clinodactyly, Failure to thrive, Short distal phalanx of finger, Brach... |
OMIM:614261 |
Smith-Magenis Syndrome |
|
Pes planus, Broad palm, Increased body weight, Scoliosis, Short palm, Abnormal forearm morphology... |
OMIM:182290 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Peroneal muscle weakness, Hyperlordosis, Metatarsus adductus, Kyphosis, Peronea... |
OMIM:181405 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Short neck, Cryptorchidism, Drumstick terminal phalanges, Umbilical hernia, Failure to thrive, Br... |
OMIM:612938 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Cryptorchidism, Spinal canal st... |
ORPHA:1724 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Rocker bottom foot, Craniosynostosis, Coxa valga, Postaxial hand polydactyly, Megarectum, Postaxi... |
OMIM:301056 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Fine hair, Thi... |
OMIM:614800 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
Myhre Syndrome |
|
Abnormal penis morphology, Craniofacial hyperostosis, Brachydactyly, Hypospadias, External genita... |
ORPHA:2588 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Short metacarpal, Toe syndactyly, Ambiguous genitalia, Absent eyelashes, Hypoplas... |
OMIM:200110 |
Trisomy 20P |
|
Micrognathia, Low anterior hairline, Reduced bone mineral density, Coarse hair, Finger syndactyly... |
ORPHA:261318 |
Oslam Syndrome |
|
Clinodactyly of the 5th finger, Radioulnar synostosis |
ORPHA:2760 |
Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300009 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1389 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Small for gestational age, Kyphosis, Cr... |
OMIM:610443 |
Oculodentodigital Dysplasia |
|
Brittle hair, Micrognathia, Sparse hair, Clinodactyly of the 5th finger, Finger syndactyly, Short... |
ORPHA:2710 |
Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Small hand, Short foot, Slender long bone, Short palm... |
OMIM:244460 |
Prader-Willi Syndrome |
|
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... |
OMIM:176270 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Arachnodactyly, Hypospadias, Short hallux, Highly arched eyebrow, Microg... |
ORPHA:280 |
Distal Deletion 10P |
|
Abnormality of the elbow, Cleft palate, Ectopic anus, Clinodactyly of the 5th finger, Anal atresi... |
ORPHA:1580 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... |
OMIM:308050 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:620196 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Hamamy Syndrome |
|
Osteopenia, Micrognathia, Sparse hair, Clinodactyly of the 5th finger, Abnormal number of hair wh... |
OMIM:611174 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:615081 |
Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Small for gestational age, Joint stiffness, Hypoplastic iliac ... |
OMIM:139210 |
Joubert Syndrome 14 |
|
Highly arched eyebrow, Renal cyst, Postaxial polydactyly |
OMIM:614424 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... |
OMIM:119600 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Contrac... |
OMIM:617527 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Metatarsus adductus, Cryptorchidism, Calcaneovalgus deformity, Hydronephrosis, Hy... |
OMIM:612513 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi... |
ORPHA:794 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Abnormal... |
ORPHA:457284 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Low anterior hai... |
OMIM:614976 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Cryptorchidism, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:619123 |
X-Linked Intellectual Disability, Cabezas Type |
|
Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short neck, Cachexia... |
ORPHA:85293 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Macs Syndrome |
|
Joint laxity, Pes planus, Alopecia, Hypergonadotropic hypogonadism, Single transverse palmar crea... |
OMIM:613075 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Brachydactyly, Cachexia, Short palm |
ORPHA:3217 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Metaphyseal widening, Abnormal form of the vertebral bodies, Triangular shaped dist... |
ORPHA:73230 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Pes planus, Thick eyebrow, Joint dislocation, Sandal gap, Recurrent shoulder dislo... |
ORPHA:230851 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Sacral dimple, Micrognathia, Short neck, Kyphosis, Cryptorchidism, Scoliosis, Mesomel... |
OMIM:616894 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Three M Syndrome 2 |
|
Scapular winging, Slender long bone, Short 5th finger, Prominent calcaneus, Clinodactyly |
OMIM:612921 |
Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... |
ORPHA:56305 |
Seckel Syndrome 1 |
|
Ivory epiphyses, 11 pairs of ribs, Sandal gap, Abnormal finger flexion crease, Single transverse ... |
OMIM:210600 |
Chromosome 17Q12 Duplication Syndrome |
|
Micrognathia, Broad thumb, Brachydactyly |
OMIM:614526 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Failure to thrive, Recurrent fractures, Micrognathia, Hyperextensibility of the kn... |
OMIM:601812 |
Rothmund-Thomson Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the patella, Short thumb, Aplasia/Hypoplasia of the... |
ORPHA:2909 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Pancreatic cysts, Stage 5 chronic kidney disease, Polydactyly, Nephron... |
OMIM:616307 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, Highly arched eyebrow, Synophrys, 2-3 toe syndactyly... |
OMIM:614701 |
Choanal Atresia |
|
Tracheomalacia, Polydactyly, Craniosynostosis |
ORPHA:137914 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Patchy alopecia, Broad distal phalanx of finger, Sparse hair, Broad thumb, Brachydactyly |
OMIM:617763 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Cryptorchidism, Broad palm, Hypoplastic nipples, Clinodactyly of the 5th finger, Join... |
OMIM:618505 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Vertebral fusion, Pseudoepiphyses of the metacarpa... |
OMIM:194190 |
Cat-Eye Syndrome |
|
Hip dysplasia, Anal atresia |
ORPHA:195 |
Bardet-Biedl Syndrome 21 |
|
Postaxial hand polydactyly, Horseshoe kidney |
OMIM:617406 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal form of the verte... |
ORPHA:2021 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Fetal Encasement Syndrome |
|
Upper limb undergrowth, Lower limb undergrowth |
OMIM:613630 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Precocious puberty, Coxa vara, Fine hair, Narrow pelvis bone, Joint hyperflexibility,... |
ORPHA:2637 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Limitation o... |
ORPHA:93260 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Micrognathia, Wido... |
ORPHA:1974 |
Acrocraniofacial Dysostosis |
|
Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Abnormal form of the vertebral bodies... |
ORPHA:949 |
Lamb-Shaffer Syndrome |
|
Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Weill-Marchesani Syndrome 4 |
|
Joint stiffness, Brachydactyly |
OMIM:613195 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Small scrotum, Rocker bottom foot, Tapered finger, Cryptorchidism, Finger clinodactyly, Long eyel... |
OMIM:601353 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Arachnodactyly, Micrognathia, Calcaneovalgus deformity, Adducted thumb, Flexion contracture, Tali... |
ORPHA:562528 |
Schisis Association |
|
Congenital diaphragmatic hernia, Micromelia, Tracheoesophageal fistula, Cleft palate, Anal atresia |
ORPHA:63862 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Syndactyly, Clinodactyly, Hirsutism |
OMIM:618087 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Delayed skeletal maturation... |
OMIM:617809 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Highly arched eyebrow, Micrognathia, Bilateral cryptorchidism,... |
ORPHA:2754 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac wing, Abnormality of t... |
ORPHA:198 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
Radio-Renal Syndrome |
|
Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the elbow, Short palm, Brachyd... |
ORPHA:3015 |
Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, Finger syndactyly, Proximal placement of thumb, Cryptorchidism |
ORPHA:139471 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... |
OMIM:101200 |
Kleefstra Syndrome 1 |
|
Hypospadias, Single transverse palmar crease, Cryptorchidism, Synophrys, Micropenis, Talipes equi... |
OMIM:610253 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Craniosynostosis, Bifid uterus, Supernumerary nipple, Abnormal reproductive system mo... |
ORPHA:1521 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, Mis... |
OMIM:220210 |
19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Sandal gap, Hypospadias, Craniosynostosis, Precocious puberty, Cry... |
ORPHA:254346 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Polycystic kidney dys... |
OMIM:616546 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Flexion contracture, Hypertrichosis, S... |
OMIM:619479 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Microretrognathia, Kyphoscoliosis, Delayed skeletal maturation, Clinodactyly of the 5th finger, C... |
OMIM:620237 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Thick eyebrow, Sandal gap, Single transverse palmar crease, Tapered finger, Mic... |
OMIM:617061 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Micrognathia, Flexion contracture, Low anterior hairline, Vesicoureteral reflu... |
OMIM:605039 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Ankle clonus, Pes valgus, Scoliosis, Brachydactyly |
OMIM:619995 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Abnormality of the hand, Cryptorchidism, Abnormal foot morphology, Low anterior hairl... |
ORPHA:369891 |
Corneodermatoosseous Syndrome |
|
Abnormality of the hand, Abnormal finger morphology, Palmoplantar keratoderma, Short palm, Abnorm... |
ORPHA:3194 |
Fanconi Anemia, Complementation Group P |
|
Short thumb, Hypoplasia of the radius, Micrognathia, Absent thumb |
OMIM:613951 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Alopecia, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the dista... |
ORPHA:1647 |
Triploidy |
|
Finger syndactyly, Hypoplasia of penis, Hypospadias, Micrognathia, Cryptorchidism, Ambiguous geni... |
ORPHA:3376 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Clinodactyly, Failure to thrive, Brachydactyly |
OMIM:618048 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Craniosynostosis, Cryptorchidism, Hydronephrosis, Brachydactyly |
ORPHA:457193 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Abnormal rectum morphology, Hiatus hernia |
ORPHA:101009 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Kyphosis, Cryptorchidism, Hip dislocation, Joint hyperflexibili... |
ORPHA:96169 |
Sifrim-Hitz-Weiss Syndrome |
|
Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Flat acetabular roof, Fused cervic... |
OMIM:617159 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Preaxial hand polydactyly, Talipes equinovarus, Anal atresia |
OMIM:601389 |
Histidinuria Due To A Renal Tubular Defect |
|
Short middle phalanx of finger, Rounded middle phalanx of finger |
OMIM:235830 |
Alkuraya-Kucinskas Syndrome |
|
Small scrotum, Overlapping toe, Micrognathia, Abnormal foot morphology, Cutaneous syndactyly, Mic... |
OMIM:617822 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Ulnar bowing, Humeroradi... |
OMIM:201750 |
Chand Syndrome |
|
Curly hair, Short fifth metatarsal, Imperforate hymen, Hydroureter |
ORPHA:1401 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Short ne... |
ORPHA:233 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Broad palm, Spinal canal stenosis, Scoli... |
OMIM:277600 |
Au-Kline Syndrome |
|
Prominent metopic ridge, Overlapping toe, Postaxial polydactyly, Coxa valga, Sagittal craniosynos... |
OMIM:616580 |
Coffin-Siris Syndrome 7 |
|
Sparse scalp hair, Sagittal craniosynostosis, Clinodactyly of the 5th finger, Thick eyebrow, Brac... |
OMIM:618027 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, ... |
ORPHA:2311 |
Cranioectodermal Dysplasia 4 |
|
Sagittal craniosynostosis, Stage 5 chronic kidney disease, Hip dysplasia, Cutaneous finger syndac... |
OMIM:614378 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly |
ORPHA:508542 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Pes planus, Hypospadias, Micrognathia, Cryptorchidism, Hypoplastic frontal si... |
OMIM:300712 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Cryptorchidism, ... |
OMIM:236700 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Symphalangism affecting the phalanges of the hand, Short distal phalanx of toe, Clinodactyly of t... |
ORPHA:1292 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Small scrotum, Highly arched eyebrow, Micrognathia, ... |
ORPHA:3253 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Hydrometrocolpos, Horseshoe kidney, Aplasia of... |
OMIM:617088 |
Faciocardiomelic Syndrome |
|
Osteopenia, Dysharmonic bone age, Micrognathia, Large for gestational age, Cuboid-shaped vertebra... |
OMIM:612731 |
Frontorhiny |
|
Encephalocele, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplastic frontal sinuses, Finger... |
ORPHA:391474 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Postaxial polydactyly, Highly arched eyebrow, Trichiasis, Delayed closure o... |
OMIM:618460 |
Cinca Syndrome |
|
Joint dislocation, Delayed closure of the anterior fontanelle, Abnormal joint morphology, Reduced... |
ORPHA:1451 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Xerostomia, Aplasia of the abdominal wall musculature, Talipes equino... |
OMIM:100100 |
Smith-Magenis Syndrome |
|
Pes planus, Toe syndactyly, Failure to thrive in infancy, Joint stiffness, Micrognathia, Obesity,... |
ORPHA:819 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Prominent calcaneus, Ankle clonus, Congenital foot contractures |
ORPHA:565624 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... |
ORPHA:70475 |
Joubert Syndrome 30 |
|
Postaxial hand polydactyly |
OMIM:617622 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Rectal prolapse, Colonic stenosis, Intussusception, Acute colitis |
ORPHA:90038 |
Holzgreve Syndrome |
|
Hand polydactyly, Abnormal morphology of ulna, Abnormal metacarpal morphology |
ORPHA:2167 |
Floating-Harbor Syndrome |
|
Enlarged joints, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Dislocated radial head, Sh... |
ORPHA:2044 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Micrognathia, Short neck, Generalized joint laxity, Thoracic kyphosis, Hyperm... |
ORPHA:508498 |
Vacterl Association With Hydrocephalus |
|
Radial club hand, Anal atresia, Absent thumb |
OMIM:276950 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Mosaic Trisomy 1 |
|
Single transverse palmar crease, Renal cyst, Finger clinodactyly, Micropenis, Absent distal inter... |
ORPHA:1692 |
Curry-Jones Syndrome |
|
Bicoronal synostosis, Anal stenosis, Wormian bones, Intestinal pseudo-obstruction, Intestinal mal... |
OMIM:601707 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Scarring alopecia of scalp, Clinodactyly, 3-4 toe syndac... |
OMIM:618727 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Failure to thrive, Aplasia/Hyp... |
OMIM:151050 |
Subaortic Stenosis-Short Stature Syndrome |
|
Micrognathia, Short neck, Kyphosis, Obesity, Scoliosis, Synostosis of carpal bones, Bilateral sin... |
ORPHA:3191 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Congenital contracture, Micrognathia, Synophrys, Brachydactyly |
OMIM:620156 |
Classical Ehlers-Danlos Syndrome |
|
Phalangeal dislocation, Hiatus hernia, Rectal prolapse, Osteoarthritis, Hip dislocation, Joint sw... |
ORPHA:287 |
Pallister-Hall Syndrome |
|
Microretrognathia, Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowi... |
ORPHA:672 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Esophageal stricture, Flexion contracture, Inflammati... |
ORPHA:2908 |
Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Micrognathia, Reduced bone mineral density, Coarse hair, Sparse hair, Clinodactyly ... |
ORPHA:2750 |
Down Syndrome |
|
Joint laxity, Sandal gap, Bilateral single transverse palmar creases, Short neck, Decreased ferti... |
ORPHA:870 |
Retinitis Pigmentosa 74 |
|
Polydactyly, Obesity |
OMIM:616562 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Flat glenoid fossa, Flexion contracture, Cutaneous finger syndacty... |
OMIM:224690 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Short distal phalanx of finger |
OMIM:601355 |
Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor... |
OMIM:263520 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Dystrophic toenail, Brachydactyly |
OMIM:616028 |
Monosomy 18P |
|
Alopecia, Micrognathia, Low posterior hairline, Brachydactyly |
ORPHA:1598 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Short neck, Missing ribs... |
OMIM:613686 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met... |
ORPHA:99646 |
Cree Mental Retardation Syndrome |
|
Bifid scrotum, Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Micrognathia, Cry... |
OMIM:606851 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Absent radius, Rectal atresia, Cleft palat... |
OMIM:115470 |
Distal Deletion 9P |
|
Hypoplastic labia majora, Hypospadias, Brachydactyly |
ORPHA:1642 |
Short Syndrome |
|
Alopecia, Joint hyperflexibility, Short palm, Sparse hair, Brachydactyly |
ORPHA:3163 |
Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, Tubulointerstitial nephritis, Sparse hair, Joint laxity, Rhizome... |
OMIM:218330 |
Cerebrooculonasal Syndrome |
|
Sparse eyelashes, Craniosynostosis, Postaxial polydactyly, Sparse eyebrow, Postaxial hand polydac... |
OMIM:605627 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Alg8-Cdg |
|
Small for gestational age, Talipes equinovarus, Camptodactyly, Failure to thrive, Brachydactyly |
ORPHA:79325 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Overlapping toe, Hypospadias, Highly arched eyebrow, Long fingers, Cryptorchidism, Syno... |
OMIM:618316 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Irregular menstruation, Facial palsy secon... |
OMIM:269500 |
Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, External ge... |
OMIM:249000 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Failure to thrive, Umbilical hernia, Large for gestational age |
OMIM:614520 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Overlapping toe, Pes pl... |
OMIM:213980 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Aganglionic megacolon, Down-sloping shoulders, Abnormal palmar dermatoglyphics, High,... |
OMIM:309800 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Small for gestational age, Kyphoscoliosis, B... |
ORPHA:97360 |
Carey-Fineman-Ziter Syndrome |
|
Micrognathia, Aplasia of the pectoralis major muscle, Glandular hypospadias, Ulnar deviation of f... |
ORPHA:1358 |
Short-Rib Thoracic Dysplasia 12 |
|
Ambiguous genitalia, Hypoplastic scapulae, Bowing of the legs, Short toe, Broad palm, Renal hypop... |
OMIM:269860 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Abnormal foot morphology, Synophrys, Cutaneous finger syndactyly, Thick eyebrow |
OMIM:210745 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Congenital alopec... |
ORPHA:158687 |
15q26 overgrowth syndrome |
|
Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe... |
DECIPHER:81 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... |
OMIM:603671 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Osteoporosis, Scoliosis, Clinodactyly, Failure to thrive |
ORPHA:2169 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Thick hair, Tapered finger, Abnormal eyelash morph... |
ORPHA:193 |
Leprechaunism |
|
Large hands, Skeletal muscle atrophy, Rectal prolapse, Megarectum |
ORPHA:508 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... |
ORPHA:373 |
3C Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Hypospadias, Micrognathia, Missing ribs, Hand polydactyly... |
ORPHA:7 |
Bresek Syndrome |
|
Alopecia, Cryptorchidism, Postaxial hand polydactyly, Renal hypoplasia, Vesicoureteral reflux, De... |
ORPHA:85284 |
Fanconi Anemia |
|
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Micrognat... |
ORPHA:84 |
Sirenomelia |
|
Aplasia/Hypoplasia of the radius, Tracheoesophageal fistula, Anal atresia, Sirenomelia |
ORPHA:3169 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Cone-shaped e... |
ORPHA:261323 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Proximal phalangeal periosteal thickening, Clubbing, Bone pain, Osteolytic defects of the phalang... |
OMIM:161700 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Slow-growing hair, Single transverse palmar crease, Rock... |
OMIM:272950 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse scalp hair, Hypospadias, Supernumerary nipple, Tapered finger, Sparse eyebrow, Short thumb... |
ORPHA:477993 |
Radio-Tartaglia Syndrome |
|
Pes planus, Thick eyebrow, Highly arched eyebrow, Tapered finger, Precocious puberty, Long eyebro... |
OMIM:619312 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Abnormal thumb morphology, High, narrow palate, Cleft palate, Clinodacty... |
ORPHA:3242 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Postaxial hand polydactyly, Abnormality of the anterior pituitary, Renal ... |
ORPHA:75389 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Oligosacchariduria, Talipes equinovarus, Camptodactyly, Facial hypertrichosis, Clinodactyly, Brac... |
ORPHA:397709 |
Distal Deletion 13Q |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Anal atresia, Abnormal metacarpal morph... |
ORPHA:1590 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Delayed skeletal maturation, Obesity, Brachydactyly |
OMIM:608624 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Cleft palate, Ectopic anus, Triphalan... |
ORPHA:2549 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Decreased response to growth hormone s... |
ORPHA:96182 |
Vacterl/Vater Association |
|
Bifid scrotum, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias,... |
ORPHA:887 |
Cerebrooculonasal Syndrome |
|
Sparse eyebrow, Postaxial hand polydactyly, Hypoplasia of penis, Sparse eyelashes |
ORPHA:66625 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Short palm, Brachy... |
ORPHA:3339 |
Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Neop... |
ORPHA:157794 |
Kabuki Syndrome 2 |
|
Joint laxity, Highly arched eyebrow, Micrognathia, Hip dislocation, Horseshoe kidney, Short 5th f... |
OMIM:300867 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Absent nipple, Cubitus valgus, Ureteral triplication, Hyd... |
OMIM:104350 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Tracheoesophageal ... |
OMIM:314390 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Bone pain, Decreased skull ossifica... |
ORPHA:955 |
Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Hydroureter, Hypospadias, Micromelia, Abnormal hair morphology, Capitate-... |
ORPHA:289 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Joint stiffness, Abnormality of the male genitalia, Cry... |
ORPHA:847 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Postaxial hand polydactyly |
OMIM:220220 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Small scrotum, Arachnodactyly, Long palm, Camptodacty... |
ORPHA:2215 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, Micrognat... |
ORPHA:1908 |
Chops Syndrome |
|
Curly hair, Thick hair, Cryptorchidism, Synophrys, Vesicoureteral reflux, Horseshoe kidney, Coars... |
OMIM:616368 |
Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Type A brachydactyly, Postaxial hand polydactyly, Low posterior hai... |
OMIM:620107 |
Recombinant 8 Syndrome |
|
Bilateral single transverse palmar creases, Camptodactyly of finger, Patellar aplasia, Cleft pala... |
ORPHA:96167 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Tarsal Coalition |
|
Tarsal synostosis |
OMIM:186850 |
Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Bile duct proliferation, Postaxial hand polydactyly, Renal cyst |
OMIM:611134 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Talipes equinovarus... |
OMIM:607143 |
Roberts-Sc Phocomelia Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Ankle flexion contracture, Aplasia of the ulna... |
OMIM:268300 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Abnormality of the... |
ORPHA:1556 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Micrognathia, Ectopic kidney, Dermatoglyphic ridges abnormal, Reduced bone mineral de... |
ORPHA:99413 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Hypospadias, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebro... |
OMIM:129400 |
Mosaic Monosomy X |
|
Osteopenia, Micrognathia, Ectopic kidney, Dermatoglyphic ridges abnormal, Reduced bone mineral de... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Micrognathia, Ectopic kidney, Dermatoglyphic ridges abnormal, Reduced bone mineral de... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Micrognathia, Ectopic kidney, Dermatoglyphic ridges abnormal, Reduced bone mineral de... |
ORPHA:881 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Cryptorchidism, Ab... |
ORPHA:284160 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Dysplasia of the femoral head, High palate, Anal atresia |
OMIM:616854 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Pes planus, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the ... |
OMIM:618050 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Prominent metopic ridge, Overlapping toe, Single transverse palmar crease, Hypospa... |
OMIM:619148 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Prominent metopic ridge, Tapered finger, Long fingers, Calcaneovalgus deformity, Nephrolithiasis,... |
ORPHA:521445 |
You-Hoover-Fong Syndrome |
|
Clinodactyly, Kyphoscoliosis, Brachydactyly |
OMIM:616954 |
Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Talipes equinovarus, Anal atresia, Dysphagia |
OMIM:617695 |
Acrofacial Dysostosis 1, Nager Type |
|
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Ab... |
OMIM:154400 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Abnormal foot morphology, Short distal phalanx of finger |
OMIM:609166 |
Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Joint laxity, Urethral stricture, Hypospadias, Sagittal craniosynostosis, ... |
OMIM:617063 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Syndactyly, Short metacarpal, Scapular winging, Sparse scalp hair, Single transverse ... |
OMIM:150230 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Hypospadias, Micrognathia, Renal hypoplasia, Talipes equinovarus, Camptod... |
ORPHA:314679 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Broad hallux, Aganglionic megacolon, Cleft palate, Shortening of all distal phalan... |
OMIM:614749 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, Cryptorchidism, Abnormal sh... |
ORPHA:568 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Bilateral cryptorchidism, Cryp... |
OMIM:617796 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Enuresis nocturna, Brachydactyly, Tapered finger |
OMIM:619680 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:214300 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Abnormal pelvis bone morphology, Hydroureter, Camptodactyly of finger, ... |
ORPHA:2273 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Micrognathia, Sc... |
OMIM:616038 |
Mend Syndrome |
|
Microretrognathia, Sacral dimple, Overlapping toe, Broad hallux, Micrognathia, Long fingers, Kyph... |
OMIM:300960 |
Feingold Syndrome Type 1 |
|
Toe syndactyly, Jejunal atresia, Short middle phalanx of the 2nd finger, Esophageal atresia, Shor... |
ORPHA:391641 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Anal atresia |
OMIM:235760 |
Williams Syndrome |
|
Colonic diverticula, Hallux valgus, Peptic ulcer, Down-sloping shoulders, Malabsorption, Abnormal... |
ORPHA:904 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Bifid scrotum, Finger syndactyly, Broad hallux phalanx, Abnormal penis morphology, Hypospadias, P... |
ORPHA:2211 |
Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Micrognathia, Cryptorchidism, Deep palmar crease, Polydactyly, P... |
OMIM:247200 |
Kinsship Syndrome |
|
Osteopenia, Pes planus, Single transverse palmar crease, Coxa valga, Micrognathia, Synophrys, Hip... |
OMIM:619297 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Butterfly vertebrae, Calcaneal epiphyseal stippling, Cervical kyphosis, Abnormal ossification inv... |
ORPHA:79345 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Joint laxity, Prominent metopic ridge, Postaxial polydactyly, Sagittal craniosynostos... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Joint laxity, Prominent metopic ridge, Postaxial polydactyly, Sagittal craniosynostos... |
ORPHA:352665 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, Epispadias, Coxa vara, Clitoral hypoplasia, Short ... |
ORPHA:3107 |
Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Joint stiffness, Metatarsus adductus, Short neck, E... |
ORPHA:584 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Prominent metopic ridge, Micrognathia, Polydactyly, Sparse lateral eyebrow |
ORPHA:314655 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Absent thumb |
OMIM:615272 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:95494 |
Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Anal atresia, Absent thumb |
OMIM:617244 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Failure to thrive, Camptodactyly of finger, Multiple pterygia, Micrognathia, C... |
ORPHA:2990 |
Cat-Eye Syndrome (Type I) |
|
Anal atresia |
DECIPHER:42 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, M... |
OMIM:250250 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... |
ORPHA:87 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Wide cranial sutures, Broad long bones, Fifth finger distal phalanx clinodactyly, Micrognathia, 4... |
OMIM:257850 |
Orofaciodigital Syndrome Iii |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short sternum |
OMIM:258850 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Intestinal malrotation, Aplasia of the abdominal wall musculature, Ta... |
ORPHA:2970 |
Limb-Mammary Syndrome |
|
Syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse eyebrow, 3-4 finger cutaneous syndact... |
ORPHA:69085 |
Adnp Syndrome |
|
Joint laxity, Sparse scalp hair, Broad hallux, Single transverse palmar crease, Sandal gap, Urina... |
ORPHA:404448 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... |
ORPHA:480536 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Frontal balding |
ORPHA:1942 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, External genital hypoplasia, Micrognathia, Flexion contracture, ... |
ORPHA:96334 |
Fraser Syndrome 3 |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Short toe, Cutaneous syndactyly, Ureteral agenesis |
OMIM:617667 |
Osteogenesis Imperfecta, Type Xvii |
|
Bowed humerus, Thin long bone diaphyses, Thin metacarpal cortices, Hip dislocation |
OMIM:616507 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of h... |
OMIM:180700 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Micrognathia, Kyphosis, Cryptorchidism, Meningocele, Sclerosis of s... |
OMIM:130720 |
Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Progressive flexion contrac... |
ORPHA:93932 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Anterior pituitary hy... |
ORPHA:464306 |
Raine Syndrome |
|
Bowing of the long bones, Increased bone mineral density, Hydroureter, Micromelia, Highly arched ... |
OMIM:259775 |
Limb Body Wall Complex |
|
Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, C... |
ORPHA:2369 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Anal atresia |
OMIM:274265 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae, Hypogonadotropic hypogonadism |
ORPHA:238722 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Cone-shaped epiphysis, Fused cervic... |
OMIM:157800 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Thick hair, Micrognathia, Short tibia, Adactyly, Broad first met... |
ORPHA:2751 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Cryptorchidism,... |
OMIM:603467 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Sparse scalp hair, Pes cavus, Overlapping toe, Single transverse palmar crease... |
ORPHA:464738 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Thick eyebrow, Small hand, Short foot, Micropenis, Thickened cortex of long bones, Br... |
ORPHA:488434 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Increased density of long bones, Single transverse palmar crease, Tibial bowing, M... |
OMIM:269150 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Cachexia, Kyphosis, Scoliosis, Genu varum |
ORPHA:1969 |
Okur-Chung Neurodevelopmental Syndrome |
|
Broad hallux, Single transverse palmar crease, Micrognathia, Scoliosis, Clinodactyly of the 5th f... |
OMIM:617062 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex, Pes cavus |
ORPHA:746 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Hypospadias, Multicystic kidney dysplasia, Unilatera... |
OMIM:308205 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Intestinal malrotation, Pyloric stenosis... |
ORPHA:2308 |
Mosaic Trisomy 16 |
|
Syndactyly, Small for gestational age, Single transverse palmar crease, Short thumb, Large placen... |
ORPHA:1708 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Crypt... |
OMIM:227650 |
Acrocallosal Syndrome |
|
Microretrognathia, Finger syndactyly, Toe syndactyly, Hypospadias, Duplication of thumb phalanx, ... |
OMIM:200990 |
Monosomy 9Q22.3 |
|
Accelerated skeletal maturation, Palmar pits, Short neck, Kyphosis, Large for gestational age, Pl... |
ORPHA:77301 |
Fraser Syndrome 2 |
|
Rectal atresia, Intestinal malrotation, Anal atresia, Cutaneous syndactyly |
OMIM:617666 |
Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus, Scoliosis |
OMIM:217100 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Congenital diaphragmatic hernia, Anorectal anomaly, Tracheoesophageal fi... |
ORPHA:1834 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... |
OMIM:203500 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Micrognathia, Bi... |
OMIM:617746 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... |
ORPHA:3000 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia |
OMIM:301060 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Cryptorchidism, Postaxial hand polydactyly, Supernumerary nipple, Micropenis |
ORPHA:2519 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Craniosynos... |
OMIM:610168 |
Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Absent gallbladder, Postaxial hand polydactyly, Renal cyst, Horsesho... |
OMIM:612284 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Pes planus, Rhizomelia, Hypospadias, Precocious puberty, 2-3 toe syndactyly, Long eyelashes, Recu... |
OMIM:615877 |
Jacobsen Syndrome |
|
Hypospadias, Micrognathia, Abnormal eyelash morphology, Cryptorchidism, Missing ribs, Flexion con... |
OMIM:147791 |
Monosomy 22 |
|
Finger syndactyly, Aplasia of the thymus, Single transverse palmar crease, Synophrys, Clubbing, C... |
ORPHA:96123 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Osteopenia, Hyperextensible thumb, Congenital hip dislocation, Overlapping toe, Jo... |
ORPHA:480880 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal foot morphology, Abnormal metacarpal morphology, Umbilical hernia, Coronal craniosynosto... |
ORPHA:2095 |
Cystic Fibrosis |
|
Meconium ileus, Malabsorption, Rectal prolapse, Gastroesophageal reflux, Steatorrhea |
ORPHA:586 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Female pseudohermaphroditism, Highly arched eyebrow, Ectopic kidney, Cryptorch... |
ORPHA:1519 |
Melnick-Needles Syndrome |
|
Short humerus, Pes planus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos... |
OMIM:309350 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Progressive flexion contractures, Abnormal location of the eyebrow, Equinus calcane... |
ORPHA:522077 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Single transverse palmar crease, Elevated circulating luteinizing hormone level, Bifid distal pha... |
OMIM:618419 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Craniosynostosis, Cleft palate, Ectopic anus, High palate, Camptodact... |
ORPHA:251038 |
Meester-Loeys Syndrome |
|
Joint dislocation, Pes planus, Arachnodactyly, Cervical spine instability, Broad distal phalanx o... |
OMIM:300989 |
Williams-Beuren Syndrome |
|
Colonic diverticula, Hallux valgus, Down-sloping shoulders, Celiac disease, Rectal prolapse, Flex... |
OMIM:194050 |
Hydrolethalus |
|
Cryptorchidism, Postaxial hand polydactyly, Micromelia, Abnormal fallopian tube morphology |
ORPHA:2189 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Micro... |
OMIM:613458 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Narrow greater sciatic notch, Short palm, Hypospadias, Cryptorchidism, Short greater ... |
OMIM:312870 |
Trisomy 12P |
|
Clinodactyly of the 5th finger, Anal atresia, Large hands, Cleft palate |
ORPHA:1699 |
Orofaciodigital Syndrome Xvi |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:617563 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Pes cavus, Preaxial polydactyly |
ORPHA:163681 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epiphyseal stippling, Joint hemorrhage, Short distal phalanx of finger |
OMIM:277450 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Meningocele, Short neck |
ORPHA:3456 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Syndactyly, Dry hair, Alopecia, Proteinuria, Pancreatic cysts, Short 2nd toe, ... |
OMIM:311200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Overlapping toe, Hypospadias, Craniosynostosis, Tapered finger, Micrognathia, Cryptorchidism, Fle... |
OMIM:309590 |
Combined Oxidative Phosphorylation Deficiency 25 |
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Syndactyly, Failure to thrive |
OMIM:616430 |
Congenital Sialidosis Type 2 |
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Polydactyly, Generalized hypertrichosis |
ORPHA:93400 |
Branchiogenic Deafness Syndrome |
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Branchial cyst, Branchial fistula, Osteolytic defects of the distal phalanges of the hand, Short ... |
ORPHA:50815 |
Genitopatellar Syndrome |
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Congenital hip dislocation, Small scrotum, Hypoplastic ischia, Micrognathia, Knee flexion contrac... |
OMIM:606170 |
White-Sutton Syndrome |
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Joint laxity, Micrognathia, Short neck, Obesity, Hypoplastic cervical vertebrae, Broad foot, Worm... |
OMIM:616364 |
Mgat2-Cdg |
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Osteopenia, Long eyelashes, Hypoplastic nipples, Hirsutism, Brachydactyly |
ORPHA:79329 |
Prader-Willi Syndrome Due To Translocation |
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Pes planus, Hypopigmentation of hair, Overlapping toe, Hypogonadotropic hypogonadism, Decreased r... |
ORPHA:177907 |
Wildervanck Syndrome |
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Fused cervical vertebrae |
OMIM:314600 |
Focal Facial Dermal Dysplasia Type Iii |
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Abnormal sacroiliac joint morphology, Anal atresia |
ORPHA:1807 |
Cdags Syndrome |
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Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula, Cleft palate, R... |
OMIM:603116 |
Macrodactyly |
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Macrodactyly |
OMIM:155500 |
Noonan Syndrome |
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Abnormal hair quantity, Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, Low posterio... |
ORPHA:648 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
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Sparse scalp hair, Pes planus, Micrognathia, 2-3 toe cutaneous syndactyly, Flexion contracture, 3... |
OMIM:620029 |
Orofaciodigital Syndrome Type 3 |
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Abnormality of hair texture, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Postaxia... |
ORPHA:2752 |
Kid Syndrome |
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Sparse eyelashes, Coxa valga, Equinus calcaneus, Scarring alopecia of scalp, Sparse eyebrow, Pate... |
ORPHA:477 |
Rabson-Mendenhall Syndrome |
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Enlarged ovaries, Thick hair, Precocious puberty, Long penis, Low anterior hairline, Hirsutism, P... |
ORPHA:769 |
Barber-Say Syndrome |
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Absent nipple, Sparse eyelashes, Micrognathia, Sparse eyebrow, Cryptorchidism, Hypoplastic labia ... |
OMIM:209885 |
Rubinstein-Taybi Syndrome 1 |
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Plantar crease between first and second toes, Single transverse palmar crease, Premature thelarch... |
OMIM:180849 |
C Syndrome |
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Joint dislocation, Toe syndactyly, Bilateral single transverse palmar creases, Micromelia, Congen... |
ORPHA:1308 |
Orofaciodigital Syndrome Type 5 |
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Ectopic accessory finger-like appendage, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
ORPHA:2919 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
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Anal atresia |
OMIM:227260 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Prominent metopic ridge, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phal... |
ORPHA:364577 |
Bloom Syndrome |
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Syndactyly, Decreased fertility in females, Cryptorchidism, Azoospermia, Hand polydactyly, Clinod... |
OMIM:210900 |
Vater/Vacterl Association |
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Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... |
OMIM:192350 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Aplasia/Hypoplasia of the clavicles, Abnormal fingertip morphology, Micrognathia, Osteolysis, Ost... |
ORPHA:90154 |
Trisomy 1Q |
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Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Preaxia... |
ORPHA:261344 |
Popliteal Pterygium Syndrome |
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Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Anorectal Anomalies |
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Rectovaginal fistula, Anal atresia |
OMIM:107100 |
Spermatogenic Failure, X-Linked, 2 |
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Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Monosomy 13Q14 |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Short neck, Clinodactyly of the... |
ORPHA:1587 |
Cloacal Exstrophy |
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Hypoplasia of penis, Hydroureter, Ectopic kidney, Abnormal tibia morphology, Absent foot, Hip dis... |
ORPHA:93929 |
Timothy Syndrome |
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Cutaneous syndactyly |
OMIM:601005 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
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Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck |
OMIM:118100 |
Gastrointestinal Stromal Tumor |
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Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Microphthalmia, Syndromic 6 |
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Finger syndactyly, Thumb contracture, Toe syndactyly, Small scrotum, Single transverse palmar cre... |
OMIM:607932 |
Craniosynostosis And Dental Anomalies |
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Hallux valgus, Prominent metopic ridge, Broad hallux, Sagittal craniosynostosis, 2-3 toe syndacty... |
OMIM:614188 |
Classic Galactosemia |
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Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Craniorachischisis |
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Congenital diaphragmatic hernia, Bifid sternum, Anal atresia, Sirenomelia |
ORPHA:63260 |
Monosomy 13Q34 |
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Metrorrhagia, Postaxial hand polydactyly, Postaxial foot polydactyly, Horizontal eyebrow, Osteoch... |
ORPHA:96168 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
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Microretrognathia, Pes cavus, Hydroureter, Proportionate shortening of all digits, Tapered finger... |
ORPHA:280633 |
Pseudotrisomy 13 Syndrome |
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Cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia, Postaxial foot ... |
OMIM:264480 |
Plaa-Associated Neurodevelopmental Disorder |
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Hyperextensibility of the finger joints, Single transverse palmar crease, Rocker bottom foot, Lon... |
ORPHA:521426 |
Maternal Phenylketonuria |
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Micrognathia, Bifid distal phalanx of the thumb, Clinodactyly, Bladder exstrophy, Brachydactyly |
ORPHA:2209 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Bifid uterus, Absen... |
OMIM:256520 |
Polymerase Proofreading-Related Adenomatous Polyposis |
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Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... |
ORPHA:447877 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Macrodactyly, 2-4 toe syndactyly, Hydrocele testis, Foot polydactyly, Ovarian serous cystadenoma,... |
ORPHA:276280 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Pes planus, Thick eyebrow, Single transverse palmar crease, Dilatation of renal calices, Synophry... |
ORPHA:466950 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Periostitis, Osteolysis, Fused cervical ... |
OMIM:612852 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Arachnodactyly, Intestinal malrotation, Sandal gap, Congenital diaphragmatic hernia, High palate,... |
OMIM:617602 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Flexion contracture, Limitation of joint mobility, Osteolysi... |
ORPHA:90153 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Prominent fingertip pads, Anal atresia, Limb hypertonia |
OMIM:616875 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Widow's peak, Finger clinodactyly, Pec... |
ORPHA:306542 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Streak ovary, Hypospadias, Joint stiffness, Micrognathia, Cryptorchidism, Uterus dide... |
OMIM:618820 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Ureteropelvic junction obstruction, Highly arched eyebrow, Broad 2nd toe, Long foot, Palmoplantar... |
OMIM:280000 |
Camurati-Engelmann Disease |
|
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Coxa valga... |
ORPHA:1328 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Short distal phalanx of finger |
OMIM:118450 |
Cranioectodermal Dysplasia 2 |
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Joint laxity, Syndactyly, Renal insufficiency, Rhizomelia, Sparse eyelashes, Craniosynostosis, Mi... |
OMIM:613610 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the ure... |
ORPHA:2907 |
Legius Syndrome |
|
Nephrolithiasis, Ovarian neoplasm, Diaphyseal dysplasia, Polydactyly, Male urethral meatus stenos... |
ORPHA:137605 |
Elsahy-Waters Syndrome |
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Anal stenosis, Brachydactyly, Shortening of all phalanges of fingers, Anteriorly placed anus, Cut... |
OMIM:211380 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Short humerus, Short femur, Hypospadias, Flexion contracture, Methylmalonic aciduria, 3-Methylglu... |
ORPHA:17 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Small hand, Hip dysplasia, Scoliosis, Butterfly vertebrae |
ORPHA:50 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
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Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... |
ORPHA:247798 |
Xp22.3 Microdeletion Syndrome |
|
Ectopic anus |
ORPHA:1643 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmatic hernia, Cleft palate, Ect... |
ORPHA:2059 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Small for gestational age |
OMIM:224120 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... |
OMIM:620103 |
Oculodentodigital Dysplasia |
|
Dry hair, Neurogenic bladder, Slow-growing hair, 4-5 finger syndactyly, Hip dislocation, Fine hai... |
OMIM:164200 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Spina bifida, Hemivertebrae, Scoliosi... |
OMIM:304050 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:616950 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Prominent fingertip pads, Anal atresia, Limb hypertonia |
ORPHA:480898 |
Down Syndrome |
|
Joint laxity, Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Atlantoaxial i... |
OMIM:190685 |
Ayme-Gripp Syndrome |
|
Sparse scalp hair, Delayed cranial suture closure, Tapered finger, Radioulnar synostosis, Nail dy... |
OMIM:601088 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Short ribs, Supernume... |
OMIM:271520 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Wormian bones, Hypospadias, Decreased response to growth hormone stimulation test, Hi... |
ORPHA:444077 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Finger syndactyly, Sparse eyelashes, Supernumerary nipple, Micrognathia, Sparse eyebrow, Coarse h... |
ORPHA:1071 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the radius, Tracheoesophageal fistula, Intestinal malrotation, Anal atresia |
ORPHA:2973 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Abnormality of the musculature of the lower limbs, Areflexia of upper limbs, Myelopat... |
ORPHA:268882 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Broad femoral neck, Increased intervertebral space, Broad ischia, Diaphyse... |
OMIM:619727 |
Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Micrognathia, Cryptorchidism, Woolly hair, Synovitis, Low posterio... |
OMIM:163950 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Goiter, Bone cyst,... |
ORPHA:201 |
Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Pes planus, Broad hallux, Sandal gap, Decreased response to growth hormone stimulat... |
OMIM:615873 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Pes planus, Persistent open anterior fontanelle, Pelvic bone exostos... |
OMIM:304150 |
Developmental And Epileptic Encephalopathy 100 |
|
Single transverse palmar crease, Micrognathia, Bilateral camptodactyly, Synophrys, Elbow flexion ... |
OMIM:619777 |
Acrocephalopolydactylous Dysplasia |
|
Pancreatic fibrosis, Craniosynostosis, Micromelia, Postaxial hand polydactyly, Cystic renal dyspl... |
OMIM:200995 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, Hypoplasi... |
OMIM:122470 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Hypospadias, Decreased response to growth hormone stimulation test, Premature thel... |
ORPHA:268261 |
Charge Syndrome |
|
Hypoplasia of the ulna, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Micrognathia, Ab... |
OMIM:214800 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Postaxial hand polydactyly, Multiple small medullary renal cysts, Stag... |
OMIM:216360 |
Toriello-Carey Syndrome |
|
Micrognathia, Sparse eyebrow, Cryptorchidism, Clinodactyly, Brachydactyly |
ORPHA:3338 |
Marfan Syndrome |
|
Pes planus, Medial rotation of the medial malleolus, Arachnodactyly, Protrusio acetabuli, Genu re... |
OMIM:154700 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Rocker bottom foot, Short 2nd toe, Hip dysplasia, High palate, Clinodactyly of the 5th... |
OMIM:612582 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Hydroureter, Supernumerary nipple, Unilateral renal agenesis, Cryptorchidism, El... |
OMIM:619194 |
Degcags Syndrome |
|
Osteopenia, Micrognathia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature... |
OMIM:619488 |
Lathosterolosis |
|
Hypoplasia of penis, Toe syndactyly, Prominent metopic ridge, Postaxial hand polydactyly, Horsesh... |
ORPHA:46059 |
Bladder Exstrophy |
|
Intestinal malrotation, Abnormality of the anus |
ORPHA:93930 |
Incontinentia Pigmenti |
|
Finger syndactyly, Alopecia, Camptodactyly of finger, Supernumerary nipple, Abnormal hair morphol... |
ORPHA:464 |
Primary Ciliary Dyskinesia |
|
Male infertility, Clubbing, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Sparse eyebrow, Vesicoureteral reflux, Polydactyly, Sparse hair |
OMIM:619869 |
Chime Syndrome |
|
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ... |
ORPHA:3474 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... |
ORPHA:90797 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint dislocation, Decreased response to growth hormone stimulation test, Ca... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint dislocation, Decreased response to growth hormone stimulation test, Ca... |
ORPHA:363958 |
Arboleda-Tham Syndrome |
|
Microretrognathia, Pes planus, Brachydactyly, Sandal gap, Deviation of the hallux, Short hallux, ... |
OMIM:616268 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Postaxial hand polydactyly, Pancreatic lymphangiectasis, Abnormality of the uteru... |
ORPHA:1655 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clinodactyly of the 5th finger, Toe syndactyly, Hypoplasia of the radius |
ORPHA:140952 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Renal cyst, Clinodactyly of the 5th finger, Generalized hirsutism, Hypospadi... |
ORPHA:1606 |
Osteopathia Striata With Cranial Sclerosis |
|
Anal stenosis, Arachnodactyly, Intestinal malrotation, Facial palsy, Delayed closure of the anter... |
OMIM:300373 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Shortening of all distal phalanges of the fingers, Anal stenosis, Aganglionic megacolon, Cleft pa... |
OMIM:614207 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Micrognathia, Cryptorchidism, 2-3 toe syndactyly, Talipes eq... |
OMIM:620025 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cryptorchidism, Postaxial hand polydactyly, Pancreatic lymphangiectasis, Micropenis, Hydronephros... |
OMIM:235255 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Pancreatic cysts, Stage 5 chronic kidney disease, Postaxial foot po... |
OMIM:267010 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Male urethral... |
OMIM:613406 |
Lathosterolosis |
|
Toe syndactyly, Bilobate gallbladder, Postaxial hand polydactyly, Osteoporosis, Horseshoe kidney,... |
OMIM:607330 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Single transverse palmar crease, Micrognathia, Short neck, Clinodactyly of the 5th finger, Promin... |
OMIM:612474 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Pes planus, Single transverse palmar crease, Dilatation of renal calices, Synophrys, Pes valgus, ... |
ORPHA:466943 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Decreased testicular size, Pes planus, Small scrotum, Hypospadias, Tapered finger, Micrognathia, ... |
OMIM:309580 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Arachnodactyly, Single transverse palmar crease, Overlapping toe, Micrognathia, Contracture of th... |
ORPHA:83617 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... |
ORPHA:249 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Velopharyngeal insufficiency, Overlapping toe, Anal atresia, Camptodactyly |
ORPHA:363444 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Micrognathia, Synophrys, Low anteri... |
ORPHA:199 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Toe syndactyly, Supernumerary nipple, Talipes equinovarus, Imperforate hymen, Brachydac... |
OMIM:100300 |
Emanuel Syndrome |
|
Torticollis, Congenital hip dislocation, Intestinal malrotation, Congenital diaphragmatic hernia,... |
OMIM:609029 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Urethrovaginal fistula, Micrognathia, Preaxial hand polydactyly,... |
ORPHA:93271 |
Bladder Exstrophy And Epispadias Complex |
|
Anteriorly placed anus, Abnormal pelvic girdle bone morphology |
OMIM:600057 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Short neck, Brachydactyly |
ORPHA:168577 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Toe syndactyly, Single transverse palmar crease, Craniosynostosis, 4-5 toe syndactyly, 3-5 toe sy... |
OMIM:300707 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Hypoplasia of the radius, Hip dislocation, Micrognathia |
ORPHA:3412 |
Holoprosencephaly |
|
Encephalocele, Failure to thrive in infancy, Talipes, Short neck, Cryptorchidism, Abnormal form o... |
ORPHA:2162 |
Stromme Syndrome |
|
Bilateral renal hypoplasia, Preaxial polydactyly, Hydronephrosis, Micrognathia |
OMIM:243605 |
Charge Syndrome |
|
Bifid scrotum, Hypogonadotropic hypogonadism, Talipes, Highly arched eyebrow, Cryptorchidism, Abn... |
ORPHA:138 |
Kleefstra Syndrome Due To A Point Mutation |
|
Gastroesophageal reflux, Anal atresia, Tapered finger |
ORPHA:261652 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala... |
OMIM:105650 |
Joubert Syndrome 2 |
|
Renal insufficiency, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Nephrono... |
OMIM:608091 |
Mullegama-Klein-Martinez Syndrome |
|
Pes planus, Micrognathia, Polydactyly, Scoliosis, Clinodactyly of the 5th finger, Failure to thrive |
OMIM:301022 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Ambiguous genitalia, ma... |
ORPHA:90793 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Esophageal stricture, Flexion contrac... |
ORPHA:89842 |
Dubowitz Syndrome |
|
Syndactyly, Sparse scalp hair, Pes planus, Hypospadias, Single transverse palmar crease, Microgna... |
OMIM:223370 |
Non-Syndromic Posterior Hypospadias |
|
Esophageal atresia, Congenital diaphragmatic hernia, Anal atresia, Cleft palate |
ORPHA:95706 |
Joubert Syndrome 1 |
|
Highly arched eyebrow, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Nephro... |
OMIM:213300 |
Monosomy 9P |
|
Hypospadias, Proximal placement of thumb, Highly arched eyebrow, Abnormality of the tarsal bones,... |
ORPHA:261112 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Myelomeningocele, Short long ... |
OMIM:306955 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Missing ribs, Cryptorchidism, Hemivertebrae, But... |
OMIM:206900 |
Meckel Syndrome |
|
Ureteral duplication, Bowing of the long bones, Multicystic kidney dysplasia, True hermaphroditis... |
ORPHA:564 |
Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Renal insufficiency, Sparse axillary hair, Unilateral renal agenesis, Sparse p... |
OMIM:181270 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Congenital diaphragmatic hernia, Cleft palate, High palate, Gastroesophageal reflu... |
OMIM:614080 |
Pgm3-Cdg |
|
Decreased/absent ankle reflexes, Osteomyelitis, Membranoproliferative glomerulonephritis, Brachyd... |
ORPHA:443811 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Hypospadias, Micrognathia, Cryptorchidism, Widow's peak, Vesicoureteral reflux, Renal... |
OMIM:616975 |
Proteus Syndrome |
|
Abnormal finger morphology, Renal cyst, Clinodactyly of the 5th finger, Abnormality of the wrist,... |
ORPHA:744 |
Distal Deletion 3P |
|
Clinodactyly of the 5th finger, Cryptorchidism, Postaxial hand polydactyly |
ORPHA:1620 |
Trisomy 18 |
|
Camptodactyly of finger, Cryptorchidism, Postaxial hand polydactyly, Deviation of finger, Narrow ... |
ORPHA:3380 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndacty... |
OMIM:270400 |
Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Colon cancer |
OMIM:619097 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the p... |
OMIM:219000 |
Cystinosis, Nephropathic |
|
Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy... |
OMIM:219800 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Malabsorption, Flexion contracture, Neoplasm o... |
ORPHA:144 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Proximal placement of thumb, Rocker bottom foot, S... |
OMIM:229850 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Broad hallux, Micrognathia, Epispadias, Postaxial hand polydactyly, Cryptorchi... |
OMIM:615948 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Micrognathia, Vesicoureteral reflux, Joint laxity, Syndactyly, Broad hallux, Hypospadias, Highly ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Micrognathia, Vesicoureteral reflux, Joint laxity, Syndactyly, Broad hallux, Hypospadias, Highly ... |
ORPHA:353277 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Syndactyly, Dark urine, Renal insufficiency, Anterior pituitary hypoplasia, Postaxial... |
OMIM:619534 |
Okamoto Syndrome |
|
Prominent metopic ridge, Talipes, Urinary incontinence, Bifid uterus, Extension of hair growth on... |
ORPHA:2729 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Postaxial hand polydactyly, Ambiguous genitalia... |
ORPHA:2166 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Tarsal synostosis, Aplastic clavicle, Delayed cranial suture closure, Cleft palate, Ectopic anus,... |
ORPHA:85199 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Malabsorption, Hepatocellular carcinoma, Flexion contracture, Neopla... |
ORPHA:440437 |
Coffin-Siris Syndrome 12 |
|
Joint laxity, Sparse scalp hair, Hypospadias, Delayed cranial suture closure, Highly arched eyebr... |
OMIM:619325 |
Cerebrocostomandibular Syndrome |
|
Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s... |
OMIM:117650 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Brachydactyly, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus ad... |
OMIM:607872 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Toe syndactyly, Rhizomelia, Hypospadias, Micr... |
ORPHA:709 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Bilater... |
OMIM:614083 |
Fontaine Progeroid Syndrome |
|
Syndactyly, Sparse scalp hair, Small scrotum, Absent nipple, Craniosynostosis, Micrognathia, Cryp... |
OMIM:612289 |
Cardiofaciocutaneous Syndrome |
|
Abnormal morphology of ulna, Genu valgum, Deep palmar crease, Palmoplantar keratoderma, Cubitus v... |
ORPHA:1340 |
Doors Syndrome |
|
11 pairs of ribs, Increased urine alpha-ketoglutarate concentration, Ambiguous genitalia, Adrenal... |
ORPHA:79500 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal rectum morphology, Congenital diaphragmatic hernia, Abnormality of the anus |
ORPHA:2556 |
Li-Fraumeni Syndrome |
|
Rhabdomyosarcoma, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Neoplasm of the gas... |
ORPHA:524 |
Joubert Syndrome With Hepatic Defect |
|
Renal insufficiency, Multicystic kidney dysplasia, Highly arched eyebrow, Postaxial hand polydact... |
ORPHA:1454 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Anal atresia, Rectovaginal fistula, Intestinal malrotation, Cleft palate |
OMIM:270420 |
Iniencephaly |
|
Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Talipes equinovarus, Arthrogrypo... |
ORPHA:63259 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Immunodeficiency 40 |
|
Focal active colitis, Rectal fistula |
OMIM:616433 |
Orofaciodigital Syndrome Type 14 |
|
Broad hallux, Deviation of the hallux, Bilateral cryptorchidism, Epispadias, Postaxial hand polyd... |
ORPHA:434179 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Microgn... |
OMIM:601803 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Bifid uterus, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ... |
OMIM:236680 |
Arima Syndrome |
|
Proteinuria, Polyuria, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Postaxial foot... |
OMIM:243910 |
Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Sparse axillary hair, Craniosynostosis, Ectopic kidne... |
ORPHA:2136 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Sandal gap, Rhabdomyosarcoma, 2-3 toe syndactyly, Cleft palate, Recurrent infectio... |
OMIM:251260 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the pelvis, Anal atresia |
ORPHA:3301 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae |
OMIM:619227 |
Fraser Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Small scrotum, Hypospadias, Abnormal hair... |
ORPHA:2052 |
Spermatogenic Failure 14 |
|
Abnormal prolactin level, Azoospermia, Elevated circulating follicle stimulating hormone level, M... |
OMIM:615842 |
Diphallia |
|
Abnormality of the gastrointestinal tract, Rectoperineal fistula, Absent thumb, Gastrointestinal ... |
ORPHA:227 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Duodenal adenocarcinoma, Adenomatous colonic polyposis, Colon cancer |
ORPHA:454840 |
Renal Agenesis |
|
Talipes equinovarus, Anal atresia |
ORPHA:411709 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Urinary incontinence, Calcaneovalgus deformity, Flexion contracture, Vesicouretera... |
ORPHA:261537 |
Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Tracheoesophageal fistula, Rectovaginal fistula, Cervical C2/C3 ... |
ORPHA:1780 |
Penile Agenesis |
|
Rectal fistula, Anorectal anomaly, Tracheoesophageal fistula, Bilateral talipes equinovarus, Anal... |
ORPHA:49 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Craniosynostosis, Postaxial hand polydactyly, Talipes equinovarus, ... |
OMIM:609192 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Short sperm flagella, Male infertility |
OMIM:620197 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... |
ORPHA:210122 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Urinary incontinence, Calcaneovalgus deformity, Flexion contracture, Vesicouretera... |
ORPHA:2152 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Rectoperineal fistula, Toe syndactyly, Preaxial hand polydactyly, Partial d... |
ORPHA:857 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:610829 |
Oeis Complex |
|
Congenital hip dislocation, Intestinal malrotation, Anteriorly placed anus, Rectovaginal fistula,... |
OMIM:258040 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Failure to thrive in infancy, Osteomalacia, Stippled calcification of th... |
ORPHA:51608 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Urinary incontinence, Calcaneovalgus deformity, Flexion contracture, Vesicouretera... |
ORPHA:261552 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Nocturia, Oligozo... |
ORPHA:85450 |
Distal 22Q11.2 Microduplication Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Tapered finger, Macroglossia, High palate, Camptodactyly... |
ORPHA:261337 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... |
ORPHA:293987 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Crohn's disease, Anal fissure, Ulcerative colitis |
OMIM:618935 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Block vertebrae, Micrognathia, Partial duplication of thumb phalanx, Hem... |
OMIM:164210 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Cleft palate, Anteriorly placed... |
OMIM:309801 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Anal stenosis |
ORPHA:2717 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis, Hypercalciuria |
ORPHA:2239 |
46,Xy Sex Reversal 4 |
|
Anal atresia, Distal symphalangism, High palate, Cleft palate |
OMIM:154230 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Small scrotum, Sandal gap, Long fingers, Cutaneous syndactyly, Toe clinodactyly, Hy... |
OMIM:620330 |
Sacral Defect With Anterior Meningocele |
|
Rectal abscess, Bilateral talipes equinovarus |
OMIM:600145 |
Currarino Syndrome |
|
Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Rectovaginal fistula, Anal fistula... |
OMIM:176450 |
Tetraamelia Syndrome 1 |
|
Anal atresia, Congenital diaphragmatic hernia, Hypoplastic pelvis, Cleft palate |
OMIM:273395 |
Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia involving bones of the hand, Absent foot, Hig... |
ORPHA:96176 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Pancreatic insufficiency, combined exocrine |
|
Anal atresia |
OMIM:260450 |
Kabuki Syndrome 1 |
|
Joint dislocation, Anal stenosis, Congenital hip dislocation, Intestinal malrotation, Malabsorpti... |
OMIM:147920 |
Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Palmoplantar hyperkeratosis, Dysphagia, Oral leukoplakia |
OMIM:173650 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atresia, Rectal abscess, Intesti... |
ORPHA:436252 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Anal atresia |
OMIM:617466 |
Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Anal stenosis |
OMIM:248450 |
Renpenning Syndrome 1 |
|
Cleft palate, Camptodactyly, High palate, Synostosis of the proximal phalanx of the thumb with th... |
OMIM:309500 |
Malakoplakia |
|
Neoplasm of the rectum, Neoplasm of the colon |
ORPHA:556 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy, Recurrent gastroenteritis, Anal fissure, Perianal dermatitis |
ORPHA:294023 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflammation, Abn... |
ORPHA:95455 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Foot joint contracture, Anal fissure, Flexion contracture, Dysphagia, Gastrointestinal inflammati... |
ORPHA:79408 |
Sacral Agenesis With Vertebral Anomalies |
|
Anal atresia, Persistent cloaca |
OMIM:615709 |
Aspartylglucosaminuria |
|
Arthritis, Abnormal morphology of ulna |
ORPHA:93 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Rectal abscess |
OMIM:608203 |
Duplication Of Urethra |
|
Rectourethral fistula, Anal fistula, Anal atresia, Anorectal anomaly |
ORPHA:237 |
Lumbar Syndrome |
|
Ectopic anus, Anal atresia |
ORPHA:83628 |
Leukocyte Adhesion Deficiency, Type I |
|
Rectal abscess |
OMIM:116920 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess |
OMIM:601495 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Rectal abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Rectal abscess |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Rectal abscess |
OMIM:233690 |
Granulomatous Disease, Chronic, X-Linked |
|
Rectal abscess |
OMIM:306400 |
Johanson-Blizzard Syndrome |
|
Colonic diverticula, Single transverse palmar crease, Malabsorption, Anteriorly placed anus, Rect... |
OMIM:243800 |
Carney Complex |
|
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Hepatocellular carcinoma, T... |
ORPHA:1359 |