| Acalvaria |
|
Calvarial skull defect, Spina bifida, Hydrocephalus, Holoprosencephaly, Cleft palate, Postaxial h... |
ORPHA:945 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperleucinemia, Hyperisoleucinemia |
OMIM:620085 |
| Anencephaly 2 |
|
Median cleft palate, Anencephaly, Cleft maxillary alveolar ridge, Median cleft lip, Anophthalmia |
OMIM:619452 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Bilateral microphthalmos, Holoprosencephaly, Microphthalmia, Anophthalmia, Orofacial cleft |
OMIM:611638 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Polydactyly, Occipital encephalocele, Microphthalmia, Cleft palate, Pericardial ef... |
OMIM:613885 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Camptodactyly of finger, Spina bifida, Finger syndactyly, Synosto... |
ORPHA:957 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect, Anophthalmia, Bilateral cleft lip and palate, Microphthalmia |
OMIM:600776 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Edema, Intrauterine growth retardation, Rocker bottom foot, Cleft palate, Microphthalmia, Cerebel... |
OMIM:616570 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... |
OMIM:186000 |
| Aplasia Cutis Congenita |
|
Spinal dysraphism, Calvarial skull defect, Finger syndactyly, Toe syndactyly, Skin ulcer |
ORPHA:1114 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Orbital encephalocele, Dandy-Walker malformation, Microphthalmia, Cle... |
OMIM:164180 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Abnormality of dental eruption, Short distal phalanx of finger, Camptodactyly of finger, Hallux v... |
ORPHA:1327 |
| Meckel Syndrome, Type 10 |
|
Postaxial foot polydactyly, Camptodactyly, Bifid uvula, Postaxial polydactyly, Ulnar deviation of... |
OMIM:614175 |
| Microphthalmia With Limb Anomalies |
|
Hip dislocation, Metatarsal synostosis, Cleft palate, Toe syndactyly, Single transverse palmar cr... |
OMIM:206920 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Intrauterine growth ret... |
OMIM:611134 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Dermatoglyphic ridges abnormal, Camptodactyly, Small thenar eminence, Spina bifida, Small hypothe... |
OMIM:211960 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Spindle-shaped finger, Cutaneous syndactyly, Delayed epiphyseal ossification, Frontal bossing, Tr... |
ORPHA:166024 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
| Hydrolethalus |
|
Bifid uvula, Hydrocephalus, Unilateral cleft lip, Polyhydramnios, Submucous cleft hard palate, Mi... |
ORPHA:2189 |
| Frontal Encephalocele |
|
Encephalocele, Calvarial skull defect, Spina bifida, Hydrocephalus, Dolichocephaly |
ORPHA:1931 |
| Fountain Syndrome |
|
Craniofacial hyperostosis, Short distal phalanx of finger, Erythema, Abnormal palate morphology, ... |
ORPHA:3219 |
| Gombo Syndrome |
|
Clinodactyly, Brachydactyly, Microphthalmia, Radial deviation of finger |
OMIM:233270 |
| Polydactyly, Preaxial Ii |
|
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... |
OMIM:174500 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Bilateral cleft lip and palate, Spina bifida, Cleft palate, Non-midline clef... |
ORPHA:1104 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Cleft palate, Anencephaly, Ectopic anus, Non-midline cleft lip, Aplasia/Hypoplasia ... |
ORPHA:2476 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... |
ORPHA:93403 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Short distal phalanx of hallux, Small thenar eminence, Aplasia/Hypoplasia of the distal phalanx o... |
ORPHA:3246 |
| Joubert Syndrome 18 |
|
Camptodactyly, Agenesis of cerebellar vermis, Arrhinencephaly, Postaxial polydactyly, Trident pel... |
OMIM:614815 |
| Hydrolethalus Syndrome 2 |
|
Postaxial foot polydactyly, Hydrocephalus, Preaxial foot polydactyly, Anencephaly, Cleft palate, ... |
OMIM:614120 |
| Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
| Fibular Hemimelia |
|
Oligodactyly, Short tibia, Toe syndactyly, Short toe, Fibular aplasia, Abnormal morphology of uln... |
ORPHA:93323 |
| Ulnar Hemimelia |
|
Abnormal calcification of the carpal bones, Aplasia of metacarpal bones, Abnormality of the humer... |
ORPHA:93320 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Pelvis-Shoulder Dysplasia |
|
Thick anterior alveolar ridges, Camptodactyly of finger, Prominent protruding coccyx, Bilateral m... |
ORPHA:2839 |
| Gómez-López-Hernández Syndrome |
|
Brachycephaly, Hydrocephalus, Abnormal brainstem morphology, Midface retrusion, Abnormal cerebell... |
ORPHA:1532 |
| Czeizel-Losonci Syndrome |
|
High palate, 2-3 finger syndactyly, 3-4 finger syndactyly, Spina bifida, Myelomeningocele, Hydroc... |
ORPHA:2437 |
| Trisomy 13 |
|
Calvarial skull defect, Abnormality of the dentition, Bilateral single transverse palmar creases,... |
ORPHA:3378 |
| Trisomy 1Q |
|
Increased nuchal translucency, Camptodactyly of finger, Anal atresia, Hydrocephalus, Hydrops feta... |
ORPHA:261344 |
| Polydactyly, Postaxial, Type A1 |
|
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... |
OMIM:174200 |
| Joubert Syndrome 10 |
|
Postaxial polydactyly, Deep philtrum, Frontal bossing, Thick vermilion border, Molar tooth sign o... |
OMIM:300804 |
| Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Spina bifida, Finger syndactyly, Toe syndactyly, Spina bifida occulta |
ORPHA:64754 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Flattened epiphysis, Irregular epiphyses, Metaphyseal irregularity, Small epiphyses, Flat capital... |
OMIM:603546 |
| Hartsfield Syndrome |
|
Encephalocele, Craniosynostosis, Lobar holoprosencephaly, Intrauterine growth retardation, Microp... |
ORPHA:2117 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Craniosynostosis, High palate, Brachycephaly, Hydrocephalus, Postaxial polydactyly... |
OMIM:605627 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Joubert Syndrome 22 |
|
Postaxial foot polydactyly, Agenesis of cerebellar vermis, Intrauterine growth retardation, Micro... |
OMIM:615665 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Neu-Laxova Syndrome 2 |
|
High palate, Edema, Spina bifida, Polyhydramnios, Finger syndactyly, Intrauterine growth retardat... |
OMIM:616038 |
| Multiple Synostoses Syndrome 3 |
|
Metatarsal synostosis, Hallux varus, Cleft palate, Broad thumb, Dolichocephaly, Humeroradial syno... |
OMIM:612961 |
| 2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Bullet-shaped distal phalanx of the hallux, Microphthalmia, Cleft palate... |
ORPHA:1617 |
| Microphthalmia With Limb Anomalies |
|
Hip dislocation, Short tibia, Abnormality of the upper limb, Cleft palate, Toe syndactyly, Broad ... |
ORPHA:1106 |
| Craniotelencephalic Dysplasia |
|
Craniosynostosis, Frontal encephalocele, Hydrocephalus, Septo-optic dysplasia, Microphthalmia, Fr... |
ORPHA:1528 |
| 20Q11.2 Microdeletion Syndrome |
|
Camptodactyly, Brainstem dysplasia, Intrauterine growth retardation, Finger clinodactyly, Midface... |
ORPHA:444051 |
| Syndactyly, Type Iii |
|
4-5 finger syndactyly, Short 5th finger, Syndactyly, Absent middle phalanx of 5th finger |
OMIM:186100 |
| Pierpont Syndrome |
|
Short finger, Brachycephaly, Excessive wrinkling of palmar skin, Widely spaced teeth, Broad philt... |
ORPHA:487825 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Median cleft palate, Abnormal calvaria morphology, Microphthalmia |
ORPHA:2432 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Anophthalmia, Microphthalmia, Cleft palate |
OMIM:615524 |
| Cerebrooculonasal Syndrome |
|
High palate, Brachycephaly, Widely spaced teeth, Solitary median maxillary central incisor, Micro... |
ORPHA:66625 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Syndactyly, Hydrocephalus |
OMIM:615938 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormal hip bone morphology, Finger syndactyly, Abnormality of the upper limb, Bilateral single ... |
ORPHA:1891 |
| Pierpont Syndrome |
|
Short finger, Brachycephaly, Widely spaced teeth, Broad philtrum, Deep palmar crease, Microphthal... |
OMIM:602342 |
| Joubert Syndrome 14 |
|
Encephalocele, Open mouth, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Postaxial p... |
OMIM:614424 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Everted lower lip vermilion, Abnormal spaced incisors, Thick vermilion bo... |
ORPHA:411986 |
| Syndactyly Type 1 |
|
Toe syndactyly, Finger syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Hip dysplasia, Proximal placement of thumb, Turricephaly, Hallux valgus, Brachycephaly, Spina bif... |
OMIM:613776 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
| Schisis Association |
|
Encephalocele, Anal atresia, Unilateral cleft lip, Spina bifida, Anencephaly, Cleft palate, Trach... |
ORPHA:63862 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Occipital encephalocele, Microphthalmia, Cerebellar malformation, Orofacial cleft |
ORPHA:324416 |
| Craniotelencephalic Dysplasia |
|
Craniosynostosis, Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia, Cerebellar hypop... |
OMIM:218670 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Joubert Syndrome 15 |
|
Molar tooth sign on MRI, Exencephaly, Preaxial polydactyly |
OMIM:614464 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Polydactyly, Meningocele, Intrauterine growth retardation, Microphthalmia, Anencep... |
OMIM:603194 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:617872 |
| Crossed Polysyndactyly |
|
Abnormality of the philtrum, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand p... |
ORPHA:2935 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI, Open mouth, Mesoaxial hand polydactyly |
OMIM:618763 |
| Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Hypoplasia of the pons, Ethmoidal encephalocele, Rhombencephalosynapsis, ... |
ORPHA:280195 |
| Trisomy 18 |
|
Camptodactyly of finger, Abnormality of the upper limb, Cleft palate, Narrow mouth, Narrow palate... |
ORPHA:3380 |
| Mmep Syndrome |
|
Microphthalmia, Median cleft lip, Triphalangeal thumb, Orofacial cleft, Split foot |
ORPHA:3434 |
| Orofaciodigital Syndrome Xv |
|
Postaxial hand polydactyly, Midline notch of upper alveolar ridge, Broad hallux, Duplication of p... |
OMIM:617127 |
| Mosaic Trisomy 9 |
|
Biparietal narrowing, Camptodactyly of finger, High palate, Hip dislocation, Spina bifida, Hydrop... |
ORPHA:99776 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Spinal dysraphism, Hydrocephalus, Meningocele, Finger syndactyly, Holoprosencephal... |
ORPHA:1908 |
| Frontonasal Dysplasia 1 |
|
Median cleft palate, Camptodactyly, Widely-spaced maxillary central incisors, Anterior basal ence... |
OMIM:136760 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal hip bone morphology, Syndactyly, Cleft palate, Upper limb phocomelia |
ORPHA:294975 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Conical tooth, Calvarial skull defect, Abnormality of the dentition, Coronal crani... |
ORPHA:228390 |
| Hallermann-Streiff Syndrome |
|
Platybasia, Selective tooth agenesis, Abnormality of the hand, Parietal bossing, Narrow mouth, Na... |
OMIM:234100 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Metaphyseal chondrodysplasia, Hydrocephalus, Intrauterine growth retardation, Microphthalmia, Sho... |
ORPHA:163966 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
| Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Narrow mouth, High palate, Brachycephaly, Microphthalmia |
ORPHA:2528 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... |
ORPHA:3269 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Macroglossia, Cerebellar dysplasia, Hydrocephalus, Microphthalmia, Hypoplasia of the brainstem, C... |
OMIM:613155 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Incomplete cleft of the upper lip, Unicoronal synostosis, Cleft palate, Bifid tongue... |
OMIM:616300 |
| Isolated Dandy-Walker Malformation |
|
Encephalocele, Platybasia, Cleft palate, Prominent occiput, Frontal bossing, Dandy-Walker malform... |
ORPHA:217 |
| Adams-Oliver Syndrome 4 |
|
Umbilical hernia, Microphthalmia, Aplasia of the middle phalanx of the 4th toe, Short toe, Absent... |
OMIM:615297 |
| Orofaciodigital Syndrome Vi |
|
Incomplete cleft of the upper lip, Cleft palate, Preaxial foot polydactyly, Toe syndactyly, Fibul... |
OMIM:277170 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Short thumb, Cleft palate, Carpal synostosis, Fibular aplasia, Broad thumb, Abno... |
OMIM:274000 |
| Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, High palate, Inferior cerebellar vermis hypoplasia, Proximal placemen... |
ORPHA:139471 |
| Al-Gazali-Bakalinova Syndrome |
|
Polydactyly, Flattened epiphysis, Tapered finger, Frontal bossing, Triangular mouth, Lymphedema, ... |
OMIM:607131 |
| Isolated Klippel-Feil Syndrome |
|
Anal atresia, Spina bifida, Cleft palate, Ectopic anus, Abnormal shoulder morphology |
ORPHA:2345 |
| Joubert Syndrome 2 |
|
Encephalocele, Thickened superior cerebellar peduncle, Postaxial foot polydactyly, High palate, D... |
OMIM:608091 |
| Lissencephaly 8 |
|
Retrocerebellar cyst, Occipital encephalocele, Microphthalmia, Hypoplasia of the brainstem, Cereb... |
OMIM:617255 |
| Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Oligodactyly, Abnormality of the humerus, Absent hand, Short thumb, Microgastria, Rectovaginal fi... |
ORPHA:2538 |
| Acropectorovertebral Dysplasia |
|
Short thumb, Capitate-hamate fusion, Finger syndactyly, Synostosis of carpal bones, Toe syndactyl... |
OMIM:102510 |
| Aminopterin Syndrome Sine Aminopterin |
|
Rudimentary postaxial polydactyly of hands, Oligodontia, High palate, Brachycephaly, Short thumb,... |
OMIM:600325 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation, Polydactyly |
OMIM:614465 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Occipital encephalocele, Microphthalmia, Anencephaly, Cleft palate, P... |
OMIM:611561 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the philtrum, Abnormality of the dentition, Finger syndactyly, Abnormality of the ... |
ORPHA:3268 |
| Vacterl With Hydrocephalus |
|
Esophageal atresia, Anal atresia, Hip dislocation, Spina bifida, Hydrocephalus, Tracheoesophageal... |
ORPHA:3412 |
| Iniencephaly |
|
Encephalocele, Syringomyelia, Spinal dysraphism, Anal atresia, Duodenal atresia, Spina bifida, My... |
ORPHA:63259 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia, Cleft palate, Premature skin wrinkling, Cleft upper lip, Widely-spaced maxillary ... |
OMIM:601349 |
| Trisomy 20P |
|
Plagiocephaly, Camptodactyly of finger, Abnormality of the dentition, Abnormal palate morphology,... |
ORPHA:261318 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hydrocephalus, Hypoplasia of the pons, Cerebellar cyst, Microphthalmia, Opt... |
OMIM:615181 |
| Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Postaxial foot polydactyly, Hydrocephalus, Umbilical hernia, Finger syndactyly,... |
ORPHA:380 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Hypoplasia of the pons, Intrauterine growth retardation, Microphthalmia, Cerebellar hypoplasia, T... |
OMIM:616171 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia |
OMIM:617562 |
| Solitary Median Maxillary Central Incisor |
|
Holoprosencephaly, Solitary median maxillary central incisor, Microphthalmia, Prominent median pa... |
OMIM:147250 |
| Chiari Malformation Type Ii |
|
Syringomyelia, Cervical myelopathy, Myelomeningocele, Spina bifida, Hydrocephalus, Chiari malform... |
OMIM:207950 |
| Walker-Warburg Syndrome |
|
Bifid uvula, Hydrocephalus, Submucous cleft hard palate, Dandy-Walker malformation, Microphthalmi... |
ORPHA:899 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Brachyturricephaly, Broad proximal phalanges of the hand, Optic nerve h... |
OMIM:607597 |
| Nail-Patella Syndrome |
|
Limited elbow extension, Patellar aplasia, Spina bifida, Hypoplastic radial head, Iliac horns, Di... |
OMIM:161200 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Tooth agenesis, Toe syndactyly, Hypoplastic pelvis, Erythema, Hand polyd... |
ORPHA:2092 |
| Split-Hand/Foot Malformation 1 |
|
Foot oligodactyly, Ectrodactyly, Syndactyly, Cleft palate, Broad hallux, Clinodactyly, Triphalang... |
OMIM:183600 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Hydrocephalus, Cleft palate, Aplasia/Hypoplasia of the cerebellum, Frontal bos... |
ORPHA:1926 |
| Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Postaxial foot polydactyly, Camptodactyly of toe, 3-4 finger syndactyly, Abnorm... |
OMIM:175700 |
| Joubert Syndrome 7 |
|
Encephalocele, Postaxial polydactyly, Brainstem dysplasia, Postaxial hand polydactyly, Hypoplasia... |
OMIM:611560 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
High palate, Trigonocephaly, Widely spaced teeth, Deep philtrum, Holoprosencephaly, Microphthalmi... |
OMIM:612530 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Cerebellar hypoplasia, Microphthalmia, Hydrocephalus |
OMIM:614830 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Abnormality of the dentition, Microphthalmia |
OMIM:251700 |
| Curry-Jones Syndrome |
|
Bicoronal synostosis, Intestinal malrotation, 2-3 finger syndactyly, Triphalangeal hallux, Lipomy... |
OMIM:601707 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Radioulnar synostosis, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger |
ORPHA:71289 |
| Carpenter Syndrome |
|
Craniosynostosis, Cloverleaf skull, Polydactyly, Oxycephaly, Turricephaly, Umbilical hernia, Fing... |
ORPHA:65759 |
| Monosomy 18P |
|
Tooth malposition, Brachycephaly, Holoprosencephaly, Microphthalmia, Cleft palate, Downturned cor... |
ORPHA:1598 |
| Temtamy Syndrome |
|
Abnormal palate morphology, Genu varum, Microphthalmia, Brachydactyly, Short toe, Dolichocephaly,... |
ORPHA:1777 |
| Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Palmar pits, Polydactyly, Spina bifida, Hydrocephalus, Odontogenic kerato... |
OMIM:109400 |
| Moebius Syndrome |
|
Clinodactyly, Camptodactyly, High palate, Abnormality of the dentition, Bifid uvula, Syndactyly, ... |
OMIM:157900 |
| Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Deep palmar crease, Microphthalmia, Cleft palate |
OMIM:600251 |
| Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Bifid uvula, Spina bifida, Polyhydramnios, Lack of skin elasticity, ... |
ORPHA:2671 |
| Syndactyly, Type Iv |
|
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... |
OMIM:186200 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly |
OMIM:607539 |
| Pfeiffer Syndrome Type 1 |
|
Bicoronal synostosis, High palate, Brachycephaly, Hallux varus, Aqueductal stenosis, Finger synda... |
ORPHA:93258 |
| Joubert Syndrome 37 |
|
High palate, Postaxial polydactyly, Microphthalmia, Frontal bossing, Molar tooth sign on MRI, Cer... |
OMIM:619185 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Redundant neck skin, Hydranencephaly, Cutaneous syndactyly, Clinodactyly of the 5th finger, Hypop... |
OMIM:236500 |
| Wahab Syndrome |
|
Camptodactyly, Short thumb, Short metacarpal, Syndactyly, Adducted thumb, Short palm, Clinodactyl... |
OMIM:615170 |
| Syndactyly Type 5 |
|
Short distal phalanx of finger, Camptodactyly of finger, 3-4 finger syndactyly, Ulnar deviation o... |
ORPHA:93406 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
1-4 finger syndactyly, Camptodactyly, 2-3 finger syndactyly, 3-4 finger syndactyly, Selective too... |
OMIM:225280 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Short thumb, Trigonocephaly, Single transverse palmar crease, Camptodactyly, Irregular dentition,... |
OMIM:619148 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Cloverleaf skull, Platybasia, Abnormal metaphysis morphology, Proximal placement of thumb, Abnorm... |
ORPHA:93267 |
| Caudal Duplication |
|
Intestinal duplication, Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Cerebellar dysplasia, Hydrocephalus, Hypoplasia of the pons, Cereb... |
OMIM:613153 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Macroglossia, Hydrocephalus, Olivopontocerebellar hypoplasia, Abnormal brainstem morphology, Hypo... |
ORPHA:370959 |
| Chromosome 2Q35 Duplication Syndrome |
|
3-4 finger syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 2-3 toe syndactyly, S... |
OMIM:185900 |
| Gordon Syndrome |
|
Camptodactyly of finger, High palate, Finger syndactyly, Cleft palate, Clinodactyly of the 5th fi... |
ORPHA:376 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Proximal placement of thumb, Spina bifida, Preaxial ... |
ORPHA:1120 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Brachycephaly, Flattened epiphysis, Flat acetabular roof, Coxa valga, Abnormality of... |
ORPHA:163649 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Microphthalmia, Dilated fourth ventricle |
OMIM:615771 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Preaxial polydactyly, Postaxial polydactyly, Hydrops fetalis, Polyhydramnios, Acce... |
OMIM:616546 |
| Oculofaciocardiodental Syndrome |
|
Oligodontia, Tooth malposition, Short thumb, Solitary median maxillary central incisor, Cleft pal... |
ORPHA:2712 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Short upper lip, Rocker bottom foot, Cleft palate, Toe syndactyly, Cereb... |
ORPHA:1692 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Biparietal narrowing, Hand polydactyly, Hydrocephalus, Aganglionic megacolon, Clef... |
ORPHA:220497 |
| Cofs Syndrome |
|
Camptodactyly of finger, Intrauterine growth retardation, Microphthalmia, Everted lower lip vermi... |
ORPHA:1466 |
| Joubert Syndrome 32 |
|
Postaxial foot polydactyly, Abnormal cerebellum morphology, Postaxial hand polydactyly, Frontal b... |
OMIM:617757 |
| Neu-Laxova Syndrome 1 |
|
Calcaneovalgus deformity, Rocker bottom foot, Cleft palate, Long fingers, Toe syndactyly, Cerebel... |
OMIM:256520 |
| Campomelic Dysplasia |
|
Shortening of all phalanges of the toes, Hip dislocation, Cleft palate, Narrow mouth, Shortening ... |
OMIM:114290 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Volvulus, Polyhydramnios, Brachyturricephaly, Abnormality of the tongue, Cleft pal... |
ORPHA:314621 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Alkuraya-Kucinskas Syndrome |
|
Clinodactyly, Plagiocephaly, Camptodactyly, High palate, Edema, Hydrocephalus, Overlapping toe, C... |
OMIM:617822 |
| Holoprosencephaly |
|
Tooth agenesis, Median cleft lip and palate, Solitary median maxillary central incisor, Intestina... |
ORPHA:2162 |
| 17Q12 Microduplication Syndrome |
|
Polyhydramnios, Finger syndactyly, Microphthalmia, Cleft palate, Toe syndactyly, Tracheoesophagea... |
ORPHA:261272 |
| Pfeiffer Syndrome |
|
Elbow ankylosis, High palate, Cloverleaf skull, Coronal craniosynostosis, Hydrocephalus, Brachytu... |
OMIM:101600 |
| Slc35A2-Cdg |
|
Craniosynostosis, Camptodactyly of finger, Abnormal long bone morphology, Atrophy/Degeneration af... |
ORPHA:356961 |
| Meckel Syndrome |
|
Encephalocele, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Hydrocephalus, Lobar... |
ORPHA:564 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Forearm undergrowth, Oligodactyly, Absent radius, Aqueductal stenosis, Short ti... |
OMIM:251230 |
| Joubert Syndrome 1 |
|
Macroglossia, Triangular-shaped open mouth, Postaxial foot polydactyly, Occipital myelomeningocel... |
OMIM:213300 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Hydrocephalus, Syndactyly, Microphthalmia, Smooth philtrum |
OMIM:602501 |
| Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Biparietal narrowing, Hand polydactyly, Hydrocephalus, Foot polydactyly, Aganglion... |
ORPHA:220493 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus, Metaphyseal cupping, Hypoplasia of the calcaneus, Intrauterine growth retardation,... |
OMIM:300863 |
| Orofaciodigital Syndrome Type 6 |
|
Biparietal narrowing, High palate, Hand polydactyly, Mesoaxial polydactyly, Preaxial polydactyly,... |
ORPHA:2754 |
| Cousin Syndrome |
|
Cleft palate, Fibular aplasia, Microglossia, Joint contracture of the hand, Camptodactyly, Hydroc... |
OMIM:260660 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Pallor, Difficulty in tongue movements |
OMIM:606353 |
| Waardenburg Syndrome Type 1 |
|
Spina bifida, Meningocele, Aganglionic megacolon, Cleft palate, Tented upper lip vermilion, Cleft... |
ORPHA:894 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Cranioectodermal Dysplasia |
|
Craniosynostosis, Short distal phalanx of finger, Abnormality of the dentition, Abnormal metaphys... |
ORPHA:1515 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Microphthalmia, Hydrocephalus |
ORPHA:141333 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Craniosynostosis, High palate, Hip dislocation, Genu varum, Syndactyly, Deep palmar crease, Coppe... |
OMIM:619451 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Plagiocephaly, Camptodactyly of finger, Ulnar deviation of finger, Umbilical hernia, High, narrow... |
ORPHA:1101 |
| Hb Bart'S Hydrops Fetalis |
|
Hydrops fetalis, Hydrocephalus, Polyhydramnios, Oligohydramnios, Pallor |
ORPHA:163596 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Bresek Syndrome |
|
Plagiocephaly, Hydrocephalus, Intrauterine growth retardation, Microphthalmia, Cleft palate, Opti... |
ORPHA:85284 |
| Xk Aprosencephaly Syndrome |
|
Anal atresia, Polyhydramnios, Abnormal morphology of the radius, Microphthalmia, Narrow mouth |
ORPHA:3469 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Bicoronal synostosis, Brachycephaly, Hypoplasia of the pons, Flat occiput, Optic nerve hypoplasia... |
OMIM:618736 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Oligodontia, Tooth malposition, Abnormally large globe, Complete duplication of the middle phalan... |
ORPHA:363417 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Syndactyly, Microphthalmia, Brachydactyly |
OMIM:610023 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Plagiocephaly, Diastema, Short metatarsal, Deep philtrum, Syndactyly, Short metacarpal, Talon cus... |
OMIM:605282 |
| Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Thick lower lip vermilion, Frontal bossing, Polydactyly |
OMIM:617120 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Esophageal atresia, Hydrocephalus, Holoprosencephaly, Microphthalmia, Tracheoesophageal fistula, ... |
ORPHA:77298 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of the uvula, Hip dislocation, Aplasia/Hypoplasia of fingers, Abnormality of t... |
ORPHA:84 |
| Acropectoral Syndrome |
|
Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
| Holoprosencephaly 9 |
|
Bilateral cleft lip and palate, Hydrocephalus, Short hard palate, Holoprosencephaly, Solitary med... |
OMIM:610829 |
| Muenke Syndrome |
|
Clinodactyly, Plagiocephaly, High palate, Coronal craniosynostosis, Brachycephaly, Thimble-shaped... |
OMIM:602849 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612924 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
| Focal Dermal Hypoplasia |
|
Oligodontia, Short metatarsal, Cleft palate, Toe syndactyly, Cleft upper lip, Short phalanx of fi... |
OMIM:305600 |
| Myopathic Ehlers-Danlos Syndrome |
|
Joint contracture of the hand, Tapered finger, High, narrow palate, Shoulder flexion contracture,... |
ORPHA:536516 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of metatarsal bones, Ectrodactyly, Syndactyly, Aplasia/Hypoplasia of the phala... |
OMIM:605289 |
| Pfeiffer Syndrome Type 2 |
|
Cloverleaf skull, Anal atresia, High palate, Hydrocephalus, Hallux varus, Aqueductal stenosis, Fi... |
ORPHA:93259 |
| Triploidy |
|
Macroglossia, Hydrocephalus, Meningocele, Polyhydramnios, Finger syndactyly, Holoprosencephaly, I... |
ORPHA:3376 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Craniofrontonasal Dysplasia |
|
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Camptodactyly of finger, Hand... |
ORPHA:1520 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612926 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
High palate, Tooth agenesis, Microphthalmia, Midface retrusion, Cleft palate |
ORPHA:1135 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Microphthalmia, Cleft palate |
OMIM:120433 |
| Charlie M Syndrome |
|
Tooth agenesis, Finger syndactyly, Abnormal metacarpal morphology, Narrow mouth, Thin vermilion b... |
ORPHA:1406 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Oligodactyly, Brachycephaly, Occipital encephalocele, Humeroradial synostosis, ... |
OMIM:614416 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Microphthalmia, Symphalangism affecting the phalanges of... |
ORPHA:2547 |
| Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Occipital encephalocele, Cleft palate, Smooth philtrum, Cerebellar hypop... |
OMIM:249000 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Holoprosencephaly 7 |
|
Median cleft lip and palate, Unilateral cleft lip, Solitary median maxillary central incisor, Cle... |
OMIM:610828 |
| Bartsocas-Papas Syndrome 2 |
|
Bilateral cleft lip and palate, Accessory oral frenulum, Microphthalmia, Prominent occiput, Absen... |
OMIM:619339 |
| Limb Body Wall Complex |
|
Encephalocele, Short umbilical cord, Duplication of hand bones, Aplasia/hypoplasia involving bone... |
ORPHA:2369 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Biparietal narrowing, Hand polydactyly, Hydrocephalus, Foot polydactyly, Aganglion... |
ORPHA:2318 |
| 3P25.3 Microdeletion Syndrome |
|
Congenital pseudoarthrosis of the clavicle, 2-3 finger syndactyly, Brachycephaly, Pyloric stenosi... |
ORPHA:435638 |
| Cerebrocostomandibular Syndrome |
|
Myelomeningocele, Meningocele, Hydranencephaly, Spina bifida, Short hard palate, Intrauterine gro... |
ORPHA:1393 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Optic disc hypoplasia, Dry skin, Dilated fourth ventricle, Long philtrum, Smooth philtrum, Hypopl... |
OMIM:619306 |
| Fanconi Anemia, Complementation Group I |
|
Short 1st metacarpal, Short thumb, Intrauterine growth retardation, Microphthalmia, Optic nerve h... |
OMIM:609053 |
| Marden-Walker Syndrome |
|
Camptodactyly, High palate, Inferior cerebellar vermis hypoplasia, Pyloric stenosis, Intrauterine... |
OMIM:248700 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Macroglossia, Plagiocephaly, Camptodactyly, Open mouth, High palate, Bilateral microphthalmos, Br... |
ORPHA:369891 |
| Summitt Syndrome |
|
Craniosynostosis, Syndactyly, Oxycephaly |
OMIM:272350 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Brachycephaly, Finger syndactyly, Intrauterine growth retardation, Cleft palate... |
ORPHA:2145 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Redundant neck skin, Dysgenesis of the cerebellar vermis, Early ossification of capital femoral e... |
ORPHA:397715 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Short thumb, Finger syndactyly, Synostosis of carpal bones, Aplasia/Hypoplasia of the hallux, Toe... |
ORPHA:157801 |
| Warburg Micro Syndrome 1 |
|
Overlapping toe, Microphthalmia, Narrow mouth, Thin vermilion border, Cerebellar hypoplasia, Cere... |
OMIM:600118 |
| Joubert Syndrome 30 |
|
Dandy-Walker malformation, Postaxial hand polydactyly, Superior cerebellar dysplasia, Molar tooth... |
OMIM:617622 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Camptodactyly, Dehydration, Second metatarsal posteriorly placed, Coxa valga, Rocker bottom foot,... |
OMIM:214150 |
| Blepharocheilodontic Syndrome 1 |
|
Conical tooth, Anal atresia, Cutaneous syndactyly, Hypodontia, Clinodactyly, Neural tube defect, ... |
OMIM:119580 |
| Fanconi Anemia, Complementation Group R |
|
Anal atresia, Radial dysplasia, Hydrocephalus, Agenesis of permanent teeth, Microphthalmia, Chiar... |
OMIM:617244 |
| Amish Lethal Microcephaly |
|
Cleft soft palate, Cerebellar vermis hypoplasia, Spina bifida |
ORPHA:99742 |
| Adams-Oliver Syndrome 2 |
|
Retrocerebellar cyst, Hydrocephalus, Microphthalmia, Short middle phalanx of finger, Absent dista... |
OMIM:614219 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Intestinal malrotation, Brachycephaly, Lobar holoprosencephaly, Syndactyly, Submucous cleft hard ... |
OMIM:614701 |
| Mohr Syndrome |
|
Partial duplication of the phalanges of the hallux, Preaxial foot polydactyly, Cleft palate, Meta... |
OMIM:252100 |
| Congenital Toxoplasmosis |
|
Ascites, Intrauterine growth retardation, Microphthalmia, Hydrocephalus |
ORPHA:858 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Increased nuchal translucency, Open mouth, Hip dysplasia, Anteriorly placed anus, Overlapping toe... |
OMIM:618494 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Hyperuricemia, Increased blood urea nitrogen, Hypomagnesemia |
OMIM:613845 |
| Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Brachycephaly, Flat occiput, Finger syndactyly, Exencephaly, Broad thumb, Long phi... |
ORPHA:2211 |
| Microphthalmia, Syndromic 6 |
|
Polydactyly, Bifid uvula, Abnormality of the hand, Cleft palate, Toe syndactyly, Microglossia, Ce... |
OMIM:607932 |
| Terminal Osseous Dysplasia |
|
Camptodactyly of toe, Camptodactyly of finger, Syndactyly, Accessory oral frenulum, Cleft palate,... |
OMIM:300244 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612925 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial foot polydactyly, Brachycephaly, Bifid uvula, Postaxial polydactyly, Deep philtrum, Mic... |
ORPHA:404440 |
| Humero-Radial Synostosis |
|
Elbow ankylosis, Meningocele, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Aplasia/... |
ORPHA:3265 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Conical tooth, Calvarial skull defect, Craniosynostosis, Agenesis of cerebellar ve... |
OMIM:613451 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Adams-Oliver Syndrome |
|
Encephalocele, Short distal phalanx of finger, Absent hand, Calvarial skull defect, Hydrocephalus... |
ORPHA:974 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Macroglossia, Cerebellar dysplasia, Hydrocephalus, Cerebellar cyst, Microphthalmia... |
OMIM:613150 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Abnormal palate morphology, Brachycephaly, Hydrocephalus, Abnormal metacarpal morphology, Aplasia... |
ORPHA:93262 |
| Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Aganglionic megacolon, Microphthalmia, Tapered finger, Long phil... |
ORPHA:1438 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Brachycephaly, Anophthalmia, Finger syndactyly, Short 4th metacarpal, Toe sy... |
ORPHA:264200 |
| Cockayne Syndrome Type 2 |
|
Widely spaced primary teeth, Anodontia, Intrauterine growth retardation, Enamel hypoplasia, Hypop... |
ORPHA:90322 |
| 6P22 Microdeletion Syndrome |
|
Abnormal palate morphology, Redundant skin, Hydrocephalus, Finger syndactyly, Clinodactyly |
ORPHA:251046 |
| Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Microphthalmia, Cleft palate, Clinodactyly, Wide mouth |
OMIM:619981 |
| Apert Syndrome |
|
Bifid uvula, Brachyturricephaly, Cleft palate, Broad thumb, Narrow palate, Cerebellar hypoplasia,... |
OMIM:101200 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| White Forelock With Malformations |
|
Abnormal palate morphology, Deep philtrum, Finger syndactyly, Dolichocephaly, Spina bifida occult... |
ORPHA:2475 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Craniosynostosis, Brachycephaly, Hydrocephalus, Umbilical hernia, Toe syndactyly, Radioulnar syno... |
ORPHA:171839 |
| Coach Syndrome 2 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Hydrocephalus |
OMIM:619111 |
| Filippi Syndrome |
|
2-4 toe syndactyly, Serrated incisors, Abnormality of dental morphology, Microdontia, Intrauterin... |
OMIM:272440 |
| Curry-Jones Syndrome |
|
Craniosynostosis, Finger syndactyly, Microphthalmia, Toe syndactyly, Broad thumb, Abnormality of ... |
ORPHA:1553 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, High palate, Polydactyly, Postaxial polydactyly, Agenesis of perm... |
OMIM:614091 |
| Yunis-Varon Syndrome |
|
Hip dislocation, Short upper lip, Rocker bottom foot, Gingival recession, Short toe, Dolichocepha... |
ORPHA:3472 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Plagiocephaly, Brachycephaly, Hydrocephalus, Broad philtrum, Midfac... |
OMIM:618577 |
| Pfeiffer Syndrome Type 3 |
|
Anal atresia, High palate, Hallux varus, Aqueductal stenosis, Finger syndactyly, Brachyturricepha... |
ORPHA:93260 |
| Syndactyly Type 4 |
|
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... |
ORPHA:93405 |
| Endocrine-Cerebroosteodysplasia |
|
Dolichocephaly, Aplasia/Hypoplasia of the cerebellum, Single transverse palmar crease, Brachydact... |
OMIM:612651 |
| Stevenson-Carey Syndrome |
|
Camptodactyly, Hip dysplasia, Brachycephaly, Microphthalmia, Narrow mouth, Downturned corners of ... |
OMIM:611961 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Otopalatodigital Syndrome, Type Ii |
|
Short thumb, Short metatarsal, Rocker bottom foot, Cleft palate, Toe syndactyly, Broad thumb, Nar... |
OMIM:304120 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI, 4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
| Achondrogenesis, Type Ii |
|
Brachycephaly, Abnormally large globe, Edema, Hydrops fetalis, Polyhydramnios, Broad long bones, ... |
OMIM:200610 |
| Enlarged Parietal Foramina |
|
Craniosynostosis, Cleft lip, Myelomeningocele, Occipital encephalocele, Short clavicles, Cleft pa... |
ORPHA:60015 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor |
ORPHA:228312 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Short distal phalanx of finger, Camptodactyly of finger, Abnormality of the dentition, Trigonocep... |
ORPHA:2994 |
| Craniosynostosis 6 |
|
Parietal foramina, Bicoronal synostosis, Plagiocephaly, Craniosynostosis, Brachycephaly, Right un... |
OMIM:616602 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Brachycephaly, Hypoplasia of teeth, Fifth finger distal phalanx clinodactyly, Broad long bones, M... |
OMIM:257850 |
| Acute Myelomonocytic Leukemia |
|
Abnormality of the gingiva, Pallor |
ORPHA:517 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Duplication of phalanx of hand, Hip dislocation, Spina bifida, Overlapping toe, Abnormality of th... |
ORPHA:508498 |
| Sandestig-Stefanova Syndrome |
|
Camptodactyly, High palate, Trigonocephaly, Intrauterine growth retardation, Rocker bottom foot, ... |
OMIM:618804 |
| Jacobsen Syndrome |
|
Hand polydactyly, Hip dislocation, Abnormal palate morphology, Pyloric stenosis, Spina bifida, Lo... |
ORPHA:2308 |
| Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI |
OMIM:612285 |
| Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Cleft lip, Polyhydramnios, Microphthalmia, Everted lower lip vermilion, ... |
OMIM:616920 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Brachycephaly, Microphthalmia, Cleft palate, Midface retrusion, Non-midline cleft lip |
ORPHA:1791 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic ilia, Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic acetabulae, Micro... |
OMIM:169550 |
| Joubert Syndrome 4 |
|
Thickened superior cerebellar peduncle, Elongated superior cerebellar peduncle, Cerebellar vermis... |
OMIM:609583 |
| Craniorachischisis |
|
Sirenomelia, Spinal dysraphism, Cervical spina bifida, Bifid sternum, Anal atresia, Myelomeningoc... |
ORPHA:63260 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Santos Syndrome |
|
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... |
OMIM:613005 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly, Aplasia/Hypoplasia of toe |
OMIM:600384 |
| Summitt Syndrome |
|
Craniosynostosis, Plagiocephaly, Camptodactyly of finger, Finger syndactyly, Short 4th metacarpal... |
ORPHA:3210 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Aplasia/Hypoplasia of the cerebellar vermis, Esophageal v... |
OMIM:216360 |
| Microphthalmia, Syndromic 2 |
|
Oligodontia, Bifid uvula, Phthisis bulbi, Supernumerary tooth, Hand clenching, Contracture of the... |
OMIM:300166 |
| Alg3-Cdg |
|
Macroglossia, Metaphyseal chondrodysplasia, High palate, Abnormality of limb bone morphology, Hyp... |
ORPHA:79321 |
| Brachydactyly-Syndactyly Syndrome |
|
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Cleft lip, Joint contracture of the 5th finger, Deep philtrum, Microphthalmia, Cleft palate, Midf... |
OMIM:620098 |
| Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Ectrodactyly, Finger syndactyly, Abnormal metacarpal morphology, Postaxi... |
ORPHA:1892 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal chondrodysplasia, Abnormal diaphysis morphology, Malabsorption, Diaphyseal thickening... |
ORPHA:175 |
| Baraitser-Winter Syndrome 2 |
|
Trigonocephaly, Microphthalmia, Long philtrum, Thin upper lip vermilion, Wide mouth, Orofacial cleft |
OMIM:614583 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Osseous finger syndactyly, Short distal phalanx of t... |
ORPHA:370010 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
| Roberts Syndrome |
|
Proximal placement of thumb, Abnormality of the upper limb, Cleft palate, Hypoplasia of the radiu... |
ORPHA:3103 |
| Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Syndactyly |
OMIM:617767 |
| Cerebellar-Facial-Dental Syndrome |
|
Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Taurodontia, Slender long bone, Ta... |
ORPHA:444072 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Microphthalmia, Isolated 8 |
|
True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:615113 |
| Fraser Syndrome 1 |
|
Encephalocele, Calvarial skull defect, Bilateral microphthalmos, Myelomeningocele, Hydrocephalus,... |
OMIM:219000 |
| 3Q29 Microduplication Syndrome |
|
Craniosynostosis, Biparietal narrowing, Camptodactyly of toe, High palate, Abnormality of the den... |
ORPHA:251038 |
| 22Q11.2 Deletion Syndrome |
|
Platybasia, Cleft palate, Narrow mouth, Carious teeth, Turricephaly, Occipital myelomeningocele, ... |
ORPHA:567 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly, Syndactyly, Clinodactyly of the 5th finger, Tapered finger |
OMIM:618725 |
| Monosomy 5P |
|
High palate, Finger syndactyly, Intrauterine growth retardation, Small hand |
ORPHA:281 |
| Orofaciodigital Syndrome Viii |
|
High palate, Polydactyly, Short tibia, Syndactyly, Cleft palate, Median cleft lip |
OMIM:300484 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| 2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Trigonocephaly, Cleft palate, Toe syndactyly, Thin vermilion border, Abn... |
ORPHA:251014 |
| Carpenter Syndrome 1 |
|
Agenesis of permanent teeth, Preaxial foot polydactyly, Aplasia/Hypoplasia of the middle phalange... |
OMIM:201000 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Abnormality of fibula morphology, Brachycephaly, Genu varum, Finger synd... |
ORPHA:2633 |
| Rubinstein-Taybi Syndrome 1 |
|
Short thumb, Polydactyly, Cleft palate, Broad thumb, Flared iliac wing, Narrow mouth, Narrow pala... |
OMIM:180849 |
| Rubinstein-Taybi Syndrome 2 |
|
High palate, Talon cusp, Syndactyly, Increased overbite, Broad thumb, Narrow palate, Dental maloc... |
OMIM:613684 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Cat-Eye Syndrome |
|
Anal atresia, Intrauterine growth retardation, Hip dysplasia, Microphthalmia |
ORPHA:195 |
| Fg Syndrome Type 1 |
|
Optic nerve hypoplasia, Abnormal cerebellum morphology, Single transverse palmar crease, Malrotat... |
ORPHA:93932 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Camptodactyly, Widely spaced teeth, Microdontia, Microphthalmia, Cubitus ... |
OMIM:619694 |
| Seckel Syndrome 2 |
|
Microdontia, Microphthalmia, Microglossia, Cerebellar hypoplasia, Clinodactyly of the 5th finger |
OMIM:606744 |
| Gracile Bone Dysplasia |
|
Hydrocephalus, Ankyloglossia, Slender long bone, Microphthalmia, Aniridia, Flared metaphysis, Asc... |
OMIM:602361 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... |
OMIM:228930 |
| Fraser Syndrome |
|
Encephalocele, Anal atresia, High palate, Calvarial skull defect, Myelomeningocele, Umbilical her... |
ORPHA:2052 |
| Otopalatodigital Syndrome, Type I |
|
Short distal phalanx of finger, Hip dislocation, Selective tooth agenesis, Abnormality of the fif... |
OMIM:311300 |
