Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
Sessile Serrated Polyposis Cancer Syndrome |
|
Serrated intestinal polyps |
OMIM:617108 |
Lynch Syndrome 1 |
|
Colon cancer |
OMIM:120435 |
Lynch Syndrome 2 |
|
Colon cancer |
OMIM:609310 |
Familial Adenomatous Polyposis 2 |
|
Colon cancer, Adenomatous colonic polyposis |
OMIM:608456 |
Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Colon cancer, Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic pol... |
OMIM:610069 |
Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis |
ORPHA:401911 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Polyposis, Intestinal, With Multiple Exostoses |
|
Multiple exostoses, Intestinal polyposis |
OMIM:175450 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma |
OMIM:135290 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis |
OMIM:246470 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... |
ORPHA:247798 |
Paraganglioma And Gastric Stromal Sarcoma |
|
Paraganglioma, Neoplasm of the gastrointestinal tract |
OMIM:606864 |
Anal Canal Carcinoma |
|
Anal canal squamous carcinoma |
OMIM:105580 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception |
OMIM:175510 |
Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... |
ORPHA:157798 |
Cholangiocarcinoma, Susceptibility To |
|
Cholangiocarcinoma |
OMIM:615619 |
Lynch Syndrome 8 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... |
OMIM:613244 |
Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps, Abnormal gastric mucosa morphology |
OMIM:175505 |
Mismatch Repair Cancer Syndrome 4 |
|
Astrocytoma, Non-Hodgkin lymphoma, Adenomatous colonic polyposis, Glioblastoma multiforme, Colon ... |
OMIM:619101 |
Attenuated Familial Adenomatous Polyposis |
|
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... |
ORPHA:220460 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... |
OMIM:114500 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... |
ORPHA:480536 |
High-Grade Dysplasia In Patients With Barrett Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction |
ORPHA:231080 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma |
OMIM:609265 |
Colorectal Cancer, Susceptibility To, 10 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis |
OMIM:612591 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Hereditary Mixed Polyposis Syndrome |
|
Hematochezia, Colon cancer, Adenomatous colonic polyposis, Endometrial carcinoma, Thyroid carcino... |
ORPHA:157794 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... |
ORPHA:447877 |
Birt-Hogg-Dube Syndrome 1 |
|
Cutaneous leiomyoma, Colon cancer, Cutaneous leiomyosarcoma, Multiple lipomas, Large intestinal p... |
OMIM:135150 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... |
ORPHA:329971 |
Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
Familial Adenomatous Polyposis 3 |
|
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... |
OMIM:616415 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Abnormal rectum morphology, Ganglioneuroma, Hamartomatous polyposis,... |
ORPHA:251992 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Fundic gland polyposis, Gastric adenocarcinoma, Melena |
OMIM:619182 |
Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer |
OMIM:619096 |
Familial Adenomatous Polyposis 4 |
|
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Astrocytoma, Breast intraductal papi... |
OMIM:617100 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... |
ORPHA:454840 |
Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... |
ORPHA:263665 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... |
ORPHA:524 |
Hirschsprung Disease |
|
Functional abnormality of the gastrointestinal tract, Neoplasm of the thyroid gland, Intestinal p... |
ORPHA:388 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... |
ORPHA:247806 |
Barrett Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration |
OMIM:614266 |
Tumor Predisposition Syndrome 2 |
|
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... |
OMIM:619975 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Scoliosis, Abnormal rib morphology |
ORPHA:3268 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Desmoid Tumor |
|
Neoplasm of the skin, Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, ... |
ORPHA:873 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Thyroid carcinoma, Intestinal polyposis, Multiple lipomas, Lymphoid nodular hyperplasia, Hurthle ... |
ORPHA:210548 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae |
OMIM:608681 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis, Stomach cancer, Cleft palate |
OMIM:137215 |
Cowden Syndrome 7 |
|
Trichilemmoma, Intestinal polyposis, Ductal carcinoma in situ, Hemangioma, Papilloma, Papillary t... |
OMIM:616858 |
Gardner Syndrome |
|
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... |
ORPHA:79665 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... |
ORPHA:2345 |
Cronkhite-Canada Syndrome |
|
Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Neoplasm, Hama... |
ORPHA:2930 |
Juvenile Nasopharyngeal Angiofibroma |
|
Juvenile colonic polyposis, Juvenile nasopharyngeal angiofibroma |
ORPHA:289596 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... |
OMIM:609813 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal rib morphology, Posterior rib fusion, Vertebral segmentation defect, Missing ribs, Short... |
ORPHA:1797 |
Muir-Torre Syndrome |
|
Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor... |
OMIM:158320 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... |
ORPHA:523 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... |
OMIM:184400 |
Spondylocostal Dysostosis 5 |
|
Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib... |
OMIM:122600 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:1354 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal r... |
ORPHA:2790 |
Familial Adenomatous Polyposis 1 |
|
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... |
OMIM:175100 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Patent ductus arteriosus, Abnormal intestine morphology, Pyloric stenosis |
ORPHA:2978 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... |
ORPHA:424019 |
Thoracolaryngopelvic Dysplasia |
|
Slender build, Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions... |
OMIM:187760 |
Lynch Syndrome |
|
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... |
ORPHA:144 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... |
OMIM:619079 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... |
ORPHA:2198 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... |
OMIM:151623 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Kyphomelic Dysplasia |
|
Narrow chest, Abnormal form of the vertebral bodies, Undulate ribs, Missing ribs, Anterior rib cu... |
ORPHA:1801 |
Mismatch Repair Cancer Syndrome 3 |
|
Lymphoma, Astrocytoma, Neoplasm of the rectum, Lisch nodules, T-cell lymphoma, Glioblastoma multi... |
OMIM:619097 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... |
OMIM:277300 |
Metatropic Dysplasia |
|
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Long thorax,... |
ORPHA:2635 |
Turcot Syndrome With Polyposis |
|
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... |
ORPHA:99818 |
Lynch Syndrome 4 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Familial Adenomatous Polyposis |
|
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... |
ORPHA:733 |
Mismatch Repair Cancer Syndrome 1 |
|
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... |
OMIM:276300 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Intestinal atresia, Abnormal form of the vertebral bodies, Abnormal ri... |
ORPHA:93941 |
Juvenile Polyposis Syndrome |
|
Rectocele, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hematochezia, Colon cancer, S... |
ORPHA:2929 |
Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Anal stenosis, Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebr... |
OMIM:613686 |
Lynch Syndrome 5 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... |
OMIM:614350 |
Mosaic Trisomy 14 |
|
Narrow chest, Failure to thrive, Short neck, Ectopic anus, Abnormal rib morphology, High palate, ... |
ORPHA:1703 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Obesity, Eunuchoid habitus, Short neck, Hemivertebrae, Abn... |
ORPHA:2234 |
Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Pancreatic adeno... |
ORPHA:2869 |
Oligodontia-Colorectal Cancer Syndrome |
|
Fundic gland polyposis, Breast carcinoma, Adenomatous colonic polyposis, Colon cancer |
OMIM:608615 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Prostate cancer, Melanoma, Primary peritoneal carcinoma, Ovarian neoplasm, Neoplasm of the pancre... |
ORPHA:145 |
Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnormal vertebral segme... |
ORPHA:66637 |
Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... |
ORPHA:276399 |
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
Cowden Syndrome 6 |
|
Thyroid adenoma, Colonic diverticula, Kyphosis, Subcutaneous lipoma, Meningioma, Fibroadenoma of ... |
OMIM:615109 |
Cowden Syndrome 5 |
|
Thyroid adenoma, Colonic diverticula, Kyphosis, Subcutaneous lipoma, Meningioma, Furrowed tongue,... |
OMIM:615108 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Esophageal neoplasm, Intestinal obstruction, ... |
ORPHA:44890 |
Benign Schwannoma |
|
Peripheral schwannoma, Schwannoma, Intestinal polyposis, Vestibular schwannoma, Scleral schwannom... |
ORPHA:252164 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Protein-losing enteropathy |
OMIM:619063 |
Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Gastrointestinal carcinoma, Uterine neoplasm, Neoplasm of the pancreas, Mult... |
OMIM:175200 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Cowden Syndrome 1 |
|
Thyroid adenoma, Colonic diverticula, Kyphosis, Subcutaneous lipoma, Meningioma, Fibroadenoma of ... |
OMIM:158350 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Colon cancer, Neoplasm of head and neck, Papillary renal cell carcinoma, Papillary thyroid carcin... |
ORPHA:97290 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Pectus carinatum, Multiple rib fractures, Pectus excavatum, Scoliosis, Kyphosis |
OMIM:259440 |
Becker Nevus Syndrome |
|
Pectus carinatum, Rib fusion, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Scolios... |
ORPHA:64755 |
Bile Acid Malabsorption, Primary, 1 |
|
Steatorrhea, Increased fecal bile acid, Fat malabsorption |
OMIM:613291 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Abnormal large intestine morphology, Uterine neoplasm, Scoliosis, Lymphoma, Capillary hemangioma,... |
ORPHA:109 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... |
OMIM:615237 |
Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Colorectal polyposis |
ORPHA:160148 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal form of the vertebral bodies, Obesity, Sprengel anomaly, Hemivertebrae, Abnormal rib mor... |
ORPHA:2180 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Obesity, Bell-shaped thorax, Horizontal ribs, Lateral clavicle ... |
OMIM:615633 |
Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Dysphagia, Anteriorly placed anus, Abnormal rib morphology |
ORPHA:280195 |
Hirschsprung Disease, Susceptibility To, 3 |
|
Aganglionic megacolon, Total colonic aganglionosis, Long-segment aganglionic megacolon |
OMIM:613711 |
Basal Cell Nevus Syndrome 1 |
|
Cardiac rhabdomyoma, Sprengel anomaly, Basal cell carcinoma, Vertebral wedging, Medulloblastoma, ... |
OMIM:109400 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Abnormal rib morphology, Cleft palate, Hypoplastic distal segments of scapulae |
OMIM:602196 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short neck, Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:2578 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hemangioma, Intestinal polyp |
ORPHA:457485 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Becker Nevus Syndrome |
|
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs |
OMIM:604919 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Hyperlordosis, Abnormal rib morphology, Pectus excavatu... |
ORPHA:2522 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Pate... |
OMIM:300048 |
Aicardi Syndrome |
|
Block vertebrae, Gastroesophageal reflux, Intestinal polyposis, Butterfly vertebrae, Hiatus herni... |
ORPHA:50 |
Metatropic Dysplasia |
|
Platyspondyly, Anisospondyly, Narrow chest, Hypoplasia of the odontoid process, Caudal appendage,... |
OMIM:156530 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level |
ORPHA:103907 |
Axial Mesodermal Dysplasia Spectrum |
|
Gastroesophageal reflux, Abnormal form of the vertebral bodies, Anorectal anomaly, Abnormal gastr... |
ORPHA:1834 |
Mccune-Albright Syndrome |
|
Intestinal polyposis, Pituitary adenoma |
OMIM:174800 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Glossitis, Hama... |
OMIM:175500 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal form of the vertebral bodies, Abnormal rib morphology, Rib segmentation abnormalities, V... |
ORPHA:2311 |
Prune Belly Syndrome |
|
Volvulus, Intestinal malrotation, Vertebral segmentation defect, Intestinal atresia, Abnormal rib... |
ORPHA:2970 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal rib morphology, Scoliosis... |
OMIM:118100 |
Poland Syndrome |
|
Rib fusion, Sprengel anomaly, Hemivertebrae, Short ribs |
OMIM:173800 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs |
OMIM:617405 |
Familial Melanoma |
|
Melanoma, Neoplasm of the stomach, Neoplasm of the breast, Neoplasm of the pancreas |
ORPHA:618 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Narrow chest, Abnormal clavicle morphology, Short neck, Abnormal rib morphology |
ORPHA:93267 |
Cat-Eye Syndrome |
|
Anal atresia, Abnormal rib morphology |
ORPHA:195 |
Axial Spondylometaphyseal Dysplasia |
|
Platyspondyly, Narrow chest, Posterior wedging of vertebral bodies, Aplasia/Hypoplasia of the ver... |
ORPHA:168549 |
Secondary Short Bowel Syndrome |
|
Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolon, Small inte... |
ORPHA:95427 |
Lymphangiectasia, Intestinal |
|
Prominent floating ribs, Intestinal lymphangiectasia |
OMIM:152800 |
Fibrochondrogenesis 2 |
|
Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cupped ribs |
OMIM:614524 |
Cowden Syndrome |
|
Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, High palate, Colo... |
ORPHA:201 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Fat malabsorption |
OMIM:614338 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology |
ORPHA:100025 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... |
ORPHA:79076 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Intestinal malrotation, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the tongue, Missing ribs, Hemiverteb... |
ORPHA:2759 |
Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Abnormal rib morphology, Abnormal sa... |
ORPHA:1988 |
Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal clavicle morpholo... |
ORPHA:628 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Neoplasm of head and neck, Papillary renal cell carcinoma, Papillar... |
ORPHA:319487 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Platyspondyly, Thin ribs, Obesity, Narrow vertebral interpedicular distance, Short neck, Scoliosi... |
OMIM:618395 |
Gorlin Syndrome |
|
Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Meningioma, Neoplasm, ... |
ORPHA:377 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, C1-C2 subluxation, Hyperlord... |
OMIM:184250 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Neoplasm of the ... |
OMIM:174900 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... |
OMIM:271520 |
Mosaic Variegated Aneuploidy Syndrome |
|
Rhabdomyosarcoma, Vaginal neoplasm, Stomach cancer, Myelodysplasia, Intestinal polyposis, Nephrob... |
ORPHA:1052 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Cleft palate, Abnormal rib morphology |
OMIM:601076 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Broad ribs, Bell-shape... |
ORPHA:2021 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Platyspondyly, Lumbar hyperlordosis, Cupped ribs, Beaking of vertebral bodies, Scoliosis, Irregul... |
OMIM:609616 |
Juberg-Hayward Syndrome |
|
Abnormal vertebral morphology, Scoliosis, Anteriorly placed anus, Abnormal rib morphology |
ORPHA:2319 |
Campomelia, Cumming Type |
|
Abnormal thorax morphology, Abnormal intestine morphology, Abnormal rib morphology, Myelodysplasi... |
ORPHA:1318 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Jeune Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Short thorax, Abnormal sternum morphology, Abnormal r... |
ORPHA:474 |
Osteogenesis Imperfecta, Type Ii |
|
Platyspondyly, Thin ribs, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures, Small ... |
OMIM:166210 |
Schneckenbecken Dysplasia |
|
Platyspondyly, Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Ovoid vertebral bodies, N... |
OMIM:269250 |
Three M Syndrome 2 |
|
Thin ribs, Pectus carinatum, Lumbar hyperlordosis, Short neck, Hyperlordosis, Scapular winging, S... |
OMIM:612921 |
Achondrogenesis Type 1B |
|
Narrow chest, Short neck, Abnormal rib morphology, Short thorax |
ORPHA:93298 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:1486 |
Cooper-Jabs Syndrome |
|
Missing ribs, Scoliosis, Anteriorly placed anus, Abnormal rib morphology |
ORPHA:1488 |
Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:1836 |
Mucopolysaccharidosis, Type Iva |
|
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar kyphosis, Short neck,... |
OMIM:253000 |
Renpenning Syndrome |
|
High, narrow palate, Cachexia, Sprengel anomaly, Abnormal rib morphology, Pectus excavatum, Anal ... |
ORPHA:3242 |
Meconium Ileus |
|
Microcolon, Meconium ileus |
OMIM:614665 |
Vascular Hyalinosis |
|
Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Neurofibroma, Dysphagia, Intestinal obstruction |
OMIM:606764 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Intestinal bleeding, Adenomatous colonic polyposis, Duodenal polyposis, Hepatoblastoma, Short nec... |
ORPHA:261584 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage... |
ORPHA:79501 |
Mucopolysaccharidosis, Type X |
|
Platyspondyly, Broad clavicles, Broad ribs, Spatulate ribs, Beaking of vertebral bodies, Hyperlor... |
OMIM:619698 |
Medulloblastoma |
|
Medulloblastoma, Back pain, Adenomatous colonic polyposis, Spinal cord tumor, Cerebellar medullob... |
ORPHA:616 |
White Forelock With Malformations |
|
Spina bifida occulta, Sprengel anomaly, Abnormal rib morphology |
ORPHA:2475 |
Dyggve-Melchior-Clausen Disease |
|
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Atlantoaxial instability, Fa... |
ORPHA:239 |
Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Aplasia/Hypoplas... |
ORPHA:958 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neop... |
ORPHA:440437 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Colon cancer, Burkitt lymphoma, Myelodysplasia, Prostate cancer, Nephroblastoma, Hodgkin lymphoma... |
ORPHA:158057 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Down-sloping shoulders, Sprengel anomaly, Abnormal rib morphology, ... |
ORPHA:392 |
Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Pectus carinatum, Abnormal rib morphology, Spinal canal stenosis, Short neck, Hype... |
ORPHA:582 |
Grant Syndrome |
|
Abnormality of the glenoid fossa, Narrow chest, Sprengel anomaly, Abnormal rib morphology |
ORPHA:2097 |
Hypercholanemia, Familial 1 |
|
Steatorrhea, Fat malabsorption |
OMIM:607748 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... |
ORPHA:424016 |
Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Hypoplastic sac... |
OMIM:200600 |
Tylosis With Esophageal Cancer |
|
Esophageal carcinoma, Oral leukoplakia |
OMIM:148500 |
Mucopolysaccharidosis Type 6 |
|
Failure to thrive, Broad ribs, Short neck, Macroglossia, Kyphosis, Ovoid vertebral bodies |
ORPHA:583 |
Cartilage-Hair Hypoplasia |
|
Asymmetry of the thorax, Anal stenosis, Hypoplasia of the odontoid process, Narrow chest, Lymphom... |
OMIM:250250 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thoracolumbar kyphosis, Thin ribs, Narrow chest, Thoracic hypoplasia, Disc-like vertebral bodies,... |
OMIM:151210 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Abnormal rib morphology |
ORPHA:93351 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Thoracic hypoplasia, Posterior rib cupping, Lumbar hyperlordosis, Pectus excavatum... |
OMIM:608728 |
Congenital Tufting Enteropathy |
|
Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small intestinal mucosa mo... |
ORPHA:92050 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hematochezia, Gastrointestinal carcinoma, Hamartomatous polyposis, Juvenile gastrointestinal poly... |
OMIM:175050 |
Cerebrofaciothoracic Dysplasia |
|
Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Hemiverteb... |
ORPHA:1394 |
Hypophosphatasia |
|
Failure to thrive in infancy, Narrow chest, Abnormal rib morphology |
ORPHA:436 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Patent ductus arteriosus, Duodenal stenosis |
ORPHA:2547 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Tracheoesophageal fistula, Hyperlordosis, Abnormal rib morphology |
ORPHA:3068 |
Osteogenesis Imperfecta, Type X |
|
Platyspondyly, Thin ribs, Narrow chest, Thoracic hypoplasia, Broad ribs, Thoracic scoliosis, Mult... |
OMIM:613848 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Narrow chest, Short neck, Short thorax |
ORPHA:93299 |
Shwachman-Diamond Syndrome 1 |
|
Narrow chest, Failure to thrive, Irregular ossification at anterior rib ends, Acute myeloid leuke... |
OMIM:260400 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Gastroesophageal reflux, Hypoplastic cervical vertebrae, Cervical kyphosis, Cervical spinal canal... |
ORPHA:79345 |
3M Syndrome |
|
Thin ribs, Increased vertebral height, Horizontal ribs, Short neck, Hyperlordosis, Scapular wingi... |
ORPHA:2616 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Dysphagia, Pa... |
ORPHA:97286 |
Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Narrow chest, Multiple rib fractures, Vertebral compression fracture, Small for ge... |
OMIM:616229 |
Eosinophilic Gastroenteritis |
|
Protein-losing enteropathy, Hematochezia, Abnormality of the gastrointestinal tract, Steatorrhea,... |
ORPHA:2070 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
Monosomy 9Q22.3 |
|
Abnormality of the vertebral column, Large for gestational age, Medulloblastoma, Nephroblastoma, ... |
ORPHA:77301 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Thoracic hypoplasia, Hamartoma of tongue, Intestinal malrotation, Horizontal ribs, Short ribs, Bi... |
OMIM:613091 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Pectus carinatum, Short neck, Kyphosis, Abnormal rib morphology |
ORPHA:3082 |
Alg1-Cdg |
|
Protein-losing enteropathy, Abnormality of the gastrointestinal tract |
ORPHA:79327 |
Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Narrow chest, Short ribs, Hypoplastic vertebral bodies, Short neck, Anterior rib c... |
ORPHA:2347 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Cupped ribs, High palate, Short ribs, Kyphoscoliosis |
ORPHA:1145 |
Fibrochondrogenesis 1 |
|
Platyspondyly, Thin ribs, Hypoplastic scapulae, Thoracic hypoplasia, Posterior rib cupping, Short... |
OMIM:228520 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormally ossified vertebrae, Abnormal rib morphology, Bifid t... |
ORPHA:2167 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Intestinal malrotation, Microcolon |
OMIM:619431 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Chylomicron Retention Disease |
|
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes |
OMIM:246700 |
Alg6-Cdg |
|
Protein-losing enteropathy, Macroglossia |
ORPHA:79320 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Platyspondyly, Thin ribs, Hypoplasia of the odontoid process, Kyphoscoliosis, Short neck, Promine... |
OMIM:300232 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Intestinal polyposis |
ORPHA:276413 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, 11 pairs of ribs, Thin ribs |
OMIM:300863 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Submucous cleft hard palate, Supernumerary ribs, Unilateral cleft palate, Scapular winging, Six l... |
OMIM:619122 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Thoracic hypoplasia, Short ribs, Multiple rib fractures, Short neck, Small for ges... |
OMIM:616897 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum, Persistent cloaca, Vertebral clefting, Anal... |
OMIM:615709 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs |
OMIM:122860 |
Achondrogenesis, Type Ii |
|
Absent vertebral body mineralization, Horizontal ribs, Barrel-shaped chest, Short ribs, Cleft palate |
OMIM:200610 |
Melnick-Needles Syndrome |
|
Anisospondyly, Narrow chest, Short thorax, Short clavicles, Abnormal rib morphology, Scoliosis |
ORPHA:2484 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum |
OMIM:190440 |
Cole-Carpenter Syndrome |
|
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:2050 |
Vacterl/Vater Association |
|
Anorectal anomaly, Vertebral segmentation defect, Tracheoesophageal fistula, Abnormal rib morphol... |
ORPHA:887 |
Visceral Myopathy 1 |
|
Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... |
OMIM:155310 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Microcolon, Intestinal malrotation, Neoplasm of the heart, Abnormality of the gastrointestinal tr... |
ORPHA:2241 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Dyggve-Melchior-Clausen Disease |
|
Platyspondyly, Pectus carinatum, Hypoplastic scapulae, Hypoplasia of the odontoid process, Flat g... |
OMIM:223800 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Dysph... |
OMIM:252930 |
Mungan Syndrome |
|
Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction |
OMIM:611376 |
Trisomy 13 |
|
High, narrow palate, Narrow chest, Capillary hemangioma, Abnormal rib morphology, Scoliosis, Kyph... |
ORPHA:3378 |
Dysosteosclerosis |
|
Platyspondyly, Narrow chest, Broad ribs, Increased intervertebral space, Sclerotic scapulae, Hypo... |
OMIM:224300 |
Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Patent ductus arteriosus, Meckel diverticulum, Abnormal gastrointestinal ... |
ORPHA:2847 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal vertebral morphology, Failure to thrive, Obesity, Rib fusion, Scoliosis, Cleft palate, P... |
ORPHA:261197 |
Poland Syndrome |
|
Asymmetry of the thorax, Pectus carinatum, Acute leukemia, Abnormal sternum morphology, Aplasia/H... |
ORPHA:2911 |
Pancreatic Colipase Deficiency |
|
Steatorrhea, Fat malabsorption |
ORPHA:309108 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Platyspondyly, Pectus carinatum, Narrow chest, Microglossia, Thoracic dysplasia, Hamartoma of ton... |
OMIM:263520 |
Martinez-Frias Syndrome |
|
Intestinal malrotation, Jejunal atresia, Tracheoesophageal fistula, Intestinal hypoplasia, Duoden... |
OMIM:601346 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis |
OMIM:614328 |
Aspergillosis |
|
Abnormal esophagus morphology, Hematological neoplasm, Abnormality of the vertebral column, Abnor... |
ORPHA:1163 |
Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs, Abnormal cervical curvature, Vertebral fusion, Cleft palate |
OMIM:312150 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology |
ORPHA:2643 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Patent ductus arteriosus |
OMIM:608104 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Thin ribs, Narrow chest, Gastroesophageal reflux, Abnormal form of the vertebral bodies, Abnormal... |
ORPHA:73230 |
Craniosynostosis, Herrmann-Opitz Type |
|
Cleft palate, Abnormal rib morphology |
ORPHA:2145 |
Garg-Mishra Progeroid Syndrome |
|
Platyspondyly, Narrow chest, Thin ribs, Ovoid vertebral bodies |
OMIM:620601 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Protein-losing enteropathy, Villous atrophy |
OMIM:602579 |
Mitchell-Riley Syndrome |
|
Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Jejunal atresia, Acholic sto... |
OMIM:615710 |
Cole-Carpenter Syndrome 2 |
|
Platyspondyly, Thin ribs, Pectus excavatum, High palate, Kyphosis |
OMIM:616294 |
Phaver Syndrome |
|
Butterfly vertebrae, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:2876 |
Alagille Syndrome |
|
Abnormal form of the vertebral bodies, Failure to thrive, Vertebral segmentation defect, Butterfl... |
ORPHA:52 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Posterior rib gap, Failure to thrive in infancy, Butterfly vertebrae, Kyphoscoliosis, Vertebral s... |
OMIM:611209 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Ileal ulcer |
OMIM:616744 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy |
OMIM:618154 |
Mucopolysaccharidosis, Type Iiia |
|
Ovoid thoracolumbar vertebrae, Scoliosis, Thickened ribs |
OMIM:252900 |
Familial Pancreatic Carcinoma |
|
Intestinal pseudo-obstruction, Colon cancer, Pancreatic adenocarcinoma, Ovarian carcinoma, Melano... |
ORPHA:1333 |
Aicardi Syndrome |
|
Block vertebrae, Metastatic angiosarcoma, Teratoma, Butterfly vertebrae, Carcinoma, Hiatus hernia... |
OMIM:304050 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:617952 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large for gestational age, Coat hanger sign of ribs, Small for gestational age, Thoracic hypoplasia |
ORPHA:254534 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Failure to thrive in infancy, Broad ribs, Flaring of rib cage, Fused cervical vertebrae |
OMIM:612852 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Scoliosis, Failure to thrive, Hemivertebrae |
OMIM:614688 |
Tetraamelia-Multiple Malformations Syndrome |
|
Missing ribs, Anal atresia, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3301 |
Multiple Pterygium Syndrome, Lethal Type |
|
Thin ribs, Abnormal cervical curvature, Vertebral fusion, Cleft palate |
OMIM:253290 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Scoliosis, Kyphosis, Biconcave vertebral bodies |
OMIM:259420 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Thin ribs, Cleft palate, Decreased body weight |
OMIM:618265 |
Dextrocardia |
|
Intestinal malrotation, Meckel diverticulum, Abnormal rib morphology, Neuroblastoma |
ORPHA:1666 |
Mucopolysaccharidosis, Type Ivb |
|
Platyspondyly, Hypoplasia of the odontoid process, Prominent sternum, Flaring of rib cage, Hyperl... |
OMIM:253010 |
Mpi-Cdg |
|
Protein-losing enteropathy, Gastrointestinal hemorrhage |
ORPHA:79319 |
Cartilage-Hair Hypoplasia |
|
Pectus carinatum, Narrow chest, Biconvex vertebral bodies, Failure to thrive, Abnormal form of th... |
ORPHA:175 |
Cat Eye Syndrome |
|
Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Rectal fistula, Rectal atre... |
OMIM:115470 |
Cleidocranial Dysplasia |
|
High, narrow palate, Hypoplastic scapulae, Narrow chest, Glossoptosis, Down-sloping shoulders, Sh... |
ORPHA:1452 |
Mednik Syndrome |
|
Microcolon, Volvulus, Jejunal atresia |
OMIM:609313 |
Congenital Alveolar Capillary Dysplasia |
|
Volvulus, Duodenal stenosis, Intestinal malrotation, Aganglionic megacolon, Tracheoesophageal fis... |
ORPHA:210122 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Flat glenoid fossa, Obesity, Lumbar hyperlordosis, Short ribs, Cupped ribs, Irregular chondrocost... |
OMIM:250420 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology |
ORPHA:2772 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Scoliosis,... |
OMIM:230500 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Microcolon |
OMIM:619362 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Thoracic hypoplasia, Horizontal ribs, Short ribs, Lateral clavicle hook |
OMIM:617895 |
Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Anal stenosis, Gastroesophageal reflux, Thoracic hypoplasia, Anteriorly placed... |
OMIM:117650 |
Cenani-Lenz Syndrome |
|
High, narrow palate, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:3258 |
Mosaic Trisomy 8 |
|
Narrow chest, Vertebral segmentation defect, Short neck, Abnormal rib morphology, High palate, Sc... |
ORPHA:96061 |
Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Thickened ribs |
OMIM:252920 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Chemodectoma, Gastrointestinal stroma tumor, Adrenal pheochromocy... |
OMIM:115310 |
Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Esophageal atresia, Hypothalam... |
OMIM:206900 |
Greenberg Dysplasia |
|
Platyspondyly, Fractured rib, Narrow chest, Thoracic hypoplasia, Abnormal scapula morphology, Sup... |
OMIM:215140 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:1120 |
Systemic Sclerosis |
|
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... |
ORPHA:90291 |
Refractory Celiac Disease |
|
Protein-losing enteropathy, Villous atrophy, Jejunitis |
ORPHA:398063 |
Autosomal Dominant Centronuclear Myopathy |
|
Thin ribs, Cavernous hemangioma, Pyloric stenosis |
ORPHA:169189 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Thin ribs, High palate |
ORPHA:456328 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad ribs, High palate, Vertebral arch anomaly |
ORPHA:85184 |
Radio-Renal Syndrome |
|
High, narrow palate, Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:3015 |
Cantú Syndrome |
|
Platyspondyly, Narrow chest, Broad ribs, Cuboid-shaped vertebral bodies, Short neck, Ovoid verteb... |
ORPHA:1517 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs |
ORPHA:2519 |
Kagami-Ogata Syndrome |
|
Thoracic hypoplasia, Large for gestational age, Bell-shaped thorax, Kyphoscoliosis, Hepatoblastom... |
ORPHA:254519 |
Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Thin ribs |
ORPHA:163966 |
Occipital Horn Syndrome |
|
Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Broad ribs, Hiatus hernia, Short ... |
OMIM:304150 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Abnormal form of the vertebral bodies, Missing ribs, Abnormal rib morphology, ... |
ORPHA:2769 |
Trisomy 1Q |
|
Anal atresia, Abnormal rib morphology, Cleft palate, Short thorax |
ORPHA:261344 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Bell-shaped thorax, Failure to thrive, Horizontal ribs |
OMIM:614857 |
Beckwith-Wiedemann Syndrome |
|
Macroglossia, Neoplasm, Nephroblastoma, Adrenocortical carcinoma, Facial hemangioma, Hepatoblasto... |
ORPHA:116 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Decreased body weight |
OMIM:614833 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Capillary hemangioma, Abnormal rib morphology, Pectus excavatum, Scoliosis, Kyphosis, Cleft palate |
ORPHA:2215 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Narrow chest, Thoracic dysplasia, Hamartoma of tongue, Intestinal malrotati... |
OMIM:269860 |
Fg Syndrome Type 1 |
|
Abnormal large intestine morphology, Gastroesophageal reflux, Abnormal sternum morphology, Anal a... |
ORPHA:93932 |
Schwartz-Jampel Syndrome |
|
Platyspondyly, Pectus carinatum, Odontogenic neoplasm, Shoulder flexion contracture, Decreased bo... |
ORPHA:800 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Hamartoma of tongue, Horizontal ribs, Long thorax, Short ribs, Short neck, Anal atr... |
OMIM:617925 |
Lethal Congenital Contracture Syndrome 10 |
|
Narrow chest, Broad ribs, Thoracic scoliosis, Short neck, High palate, Macroglossia, Narrow palate |
OMIM:617022 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Failure to thrive, Abnormal sternum morphology, Vertebral segmentation defect, Rib fusion, Pectus... |
ORPHA:2990 |
Hurler Syndrome |
|
Abnormal vertebral morphology, Abnormal clavicle morphology, Spinal canal stenosis, Short neck, A... |
ORPHA:93473 |
Hereditary Hemorrhagic Telangiectasia |
|
Gastrointestinal hemorrhage, Tongue telangiectasia, Intestinal polyposis, Gastrointestinal arteri... |
ORPHA:774 |
Bent Bone Dysplasia Syndrome 2 |
|
Platyspondyly, Thin ribs, Butterfly vertebrae, Short ribs, Short sternum, Short neck, Coronal cle... |
OMIM:620076 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Lumbar hemivertebrae, Thin ribs, Eunuchoid habitus, Pectus excavatum, High palate |
ORPHA:2463 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Thyroid carcinoma, Abnormal lumbar spine morphology, Abnormality of... |
ORPHA:249 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Narrow chest, Large for gestational age, Rib fusion, Short neck, Beaking of vertebral bodies, Cle... |
OMIM:213980 |
Osteogenesis Imperfecta, Type Viii |
|
Platyspondyly, Thin ribs, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Kyphosis |
OMIM:610915 |
Congenital Myopathy 22B, Severe Fetal |
|
Thin ribs, Shoulder flexion contracture, Thoracic hypoplasia, Thoracic scoliosis, Short neck, Sca... |
OMIM:620369 |
Mucolipidosis Iii Alpha/Beta |
|
Broad ribs, Spondylolisthesis, Short ribs, Scoliosis, Kyphosis |
OMIM:252600 |
Meier-Gorlin Syndrome 1 |
|
Thin ribs, Abnormal rib cage morphology, Pectus carinatum, Flat glenoid fossa, Failure to thrive,... |
OMIM:224690 |
Lethal Congenital Contracture Syndrome 5 |
|
Thin ribs, Small for gestational age |
OMIM:615368 |
Kyphomelic Dysplasia |
|
Platyspondyly, Thoracic hypoplasia, Undulate ribs, Anterior rib cupping, Cleft palate, Lateral cl... |
OMIM:211350 |
Oculocerebrocutaneous Syndrome |
|
Missing ribs, Exostoses, Abnormal rib morphology |
ORPHA:1647 |
Gracile Bone Dysplasia |
|
Thin ribs, Ankyloglossia, Failure to thrive |
OMIM:602361 |
Cog1-Cdg |
|
Posterior rib gap, Failure to thrive, Butterfly vertebrae, Vertebral segmentation defect, Kyphosc... |
ORPHA:263508 |
Kagami-Ogata Syndrome |
|
Thin ribs, Long clavicles, Bell-shaped thorax, Kyphoscoliosis |
OMIM:608149 |
Acrorenal-Mandibular Syndrome |
|
Thin ribs, Narrow palate, Hypoplastic scapulae, Narrow chest, Abnormal sacral segmentation, Butte... |
OMIM:200980 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Microcolon, Ileal atresia, Patent ductus arteriosus |
OMIM:619351 |
Antley-Bixler Syndrome |
|
Narrow chest, Cleft palate, Abnormal rib morphology |
ORPHA:83 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Platyspondyly, Thoracolumbar kyphosis, Thoracic hypoplasia, Thoracic platyspondyly, Horizontal ri... |
OMIM:618019 |
Otopalatodigital Syndrome Type 2 |
|
Narrow chest, Failure to thrive, Abnormal rib morphology, Glossoptosis, Scoliosis, Cleft palate, ... |
ORPHA:90652 |
Frontometaphyseal Dysplasia 1 |
|
Cervical C2/C3 vertebral fusion, Scapular winging, Anteriorly placed odontoid process, High palat... |
OMIM:305620 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Thin ribs, Pectus carinatum, Gastroesophageal reflux, Supernumerary ribs, High palate, Pectus exc... |
OMIM:182212 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Scoliosis, Cleft palate, Abnormal rib morphology |
ORPHA:1300 |
Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
Congenital Tracheal Stenosis |
|
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... |
ORPHA:141127 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Narrow chest, Abnormal scapula morphology, Abnormal rib morphology |
ORPHA:93317 |
Mucopolysaccharidosis, Type Vi |
|
Pectus carinatum, Hypoplasia of the odontoid process, Anterior wedging of L1, Broad ribs, Lumbar ... |
OMIM:253200 |
Kindler Epidermolysis Bullosa |
|
Inflammation of the large intestine, Esophagitis, Neoplasm of the urethra, Squamous cell carcinom... |
ORPHA:2908 |
Serkal Syndrome |
|
Malrotation of small bowel |
ORPHA:139466 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow chest, Hamartoma of tongue, Bell-shaped thorax, Horizontal ribs, Short ribs, Bifid tongue,... |
OMIM:616300 |
Craniometadiaphyseal Dysplasia |
|
Broad ribs, High palate, Scoliosis |
OMIM:269300 |
Severe Congenital Nemaline Myopathy |
|
Thin ribs, Abnormal thorax morphology, Dysphagia |
ORPHA:171430 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Anterior clefting of vertebral bodies, Exostosis of the external auditory canal, Down-sloping sho... |
OMIM:265000 |
Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Platyspondyly, Abnormal rib cage morphology, 11 pairs of ribs, Decreased body weight, Kyphoscolio... |
OMIM:271640 |
Osteopathia Striata With Cranial Sclerosis |
|
Thoracolumbar kyphosis, Bifid uvula, Anal stenosis, Gastroesophageal reflux, Intestinal malrotati... |
OMIM:300373 |
Xylt1-Cdg |
|
Short clavicles, Broad ribs, Cleft palate, Truncal obesity |
ORPHA:370930 |
Pyknoachondrogenesis |
|
Unossified sacrum, Horizontal ribs, Short ribs, Poorly ossified vertebrae, Short thorax, Enlarged... |
ORPHA:3003 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Fat malabsorption, Acholic stools |
OMIM:607765 |
Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Pyloric stenosis |
OMIM:616395 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Hepatocellular carcinoma |
OMIM:601847 |
Myotubular Myopathy With Abnormal Genital Development |
|
Thin ribs, High palate |
OMIM:300219 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Long clavicles, Thin clavicles |
OMIM:244460 |
Hallermann-Streiff Syndrome |
|
High, narrow palate, Narrow palate, Thin ribs, Abnormal rib cage morphology, Decreased number of ... |
OMIM:234100 |
Sclerosteosis 1 |
|
Broad clavicles, Sclerotic vertebral endplates, Broad ribs, Sclerotic scapulae |
OMIM:269500 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy |
OMIM:600955 |
Netherton Syndrome |
|
Recurrent infection of the gastrointestinal tract, Villous atrophy, Intestinal atresia |
OMIM:256500 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin ribs, Thin clavicles |
ORPHA:93324 |
Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Narrow chest, Fractured rib, Gastroesophageal reflux, Undulate ribs, Short ribs |
OMIM:618188 |
Mucopolysaccharidosis, Type Iiid |
|
Thickened ribs, Thoracic scoliosis, Pilonidal sinus, Hypoplastic vertebral bodies, Short neck, Ov... |
OMIM:252940 |
Acrocapitofemoral Dysplasia |
|
Pectus carinatum, Narrow chest, Lumbar hyperlordosis, Short ribs, Cupped ribs, Pectus excavatum, ... |
OMIM:607778 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Microcolon, Ileus |
ORPHA:163746 |
Oculoskeletodental Syndrome |
|
Protein-losing enteropathy, Macroglossia |
OMIM:618440 |
Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Failure to thrive, Abnormal f... |
ORPHA:280 |
Osteogenesis Imperfecta |
|
Thin ribs, Pectus carinatum, Narrow chest, Small for gestational age, Cervical kyphosis, Abnormal... |
ORPHA:666 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Protein-losing enteropathy, Narrow palate, Rectal prolapse, Intestinal lymphangiectasia |
OMIM:235510 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, High palate, Cleft palate |
OMIM:235255 |
Primary Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Increased stool alpha1-antitrypsin concentration, Functional abnorma... |
ORPHA:90362 |
Fryns Syndrome |
|
Thin ribs, Meckel diverticulum, Thoracic hypoplasia, Intestinal malrotation, Broad ribs, Aganglio... |
OMIM:229850 |
Weill-Marchesani Syndrome 1 |
|
Spinal canal stenosis, Broad ribs, Lumbar hyperlordosis, Narrow palate, Scoliosis |
OMIM:277600 |
Van Den Ende-Gupta Syndrome |
|
High, narrow palate, Thin ribs, Hypoplastic scapulae, Sacral dimple, Glenoid fossa hypoplasia, Sh... |
OMIM:600920 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Rib fusion, Celiac disease, Large for gestational age, Sacral dimple |
ORPHA:544488 |
Immunodeficiency 31C |
|
Protein-losing enteropathy, Villous atrophy, Gastrointestinal eosinophilia, Intussusception |
OMIM:614162 |
Campomelic Dysplasia |
|
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Cervical kyphosis, Hypoplastic cervical verteb... |
OMIM:114290 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Failure to thrive, Broad ribs, Teratoma, Hypoplasia of first ribs, Facial hemangioma, Short neck,... |
OMIM:269150 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Platyspondyly, Cupped ribs, Severe platyspondyly, Scoliosis, Ovoid vertebral bodies |
OMIM:608940 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Platyspondyly, Cupped ribs, Scoliosis, Ovoid vertebral bodies |
ORPHA:85167 |
Nestor-Guillermo Progeria Syndrome |
|
Thin ribs, Failure to thrive, Scoliosis, Rib osteolysis, Progressive clavicular acroosteolysis |
OMIM:614008 |
Vater/Vacterl Association |
|
Abnormal vertebral morphology, Failure to thrive, Abnormal sternum morphology, Tracheoesophageal ... |
OMIM:192350 |
Simpson-Golabi-Behmel Syndrome |
|
High, narrow palate, Macroglossia, Abnormal rib morphology, Neoplasm, Nephroblastoma, Vertebral s... |
ORPHA:373 |
Bloom Syndrome |
|
Neoplasm of the skin, Gastroesophageal reflux, Lymphoma, Malignant genitourinary tract tumor, Neo... |
ORPHA:125 |
Kbg Syndrome |
|
Cervical ribs, Rib fusion, Short neck, Vertebral fusion, Vertebral arch anomaly, Thoracic kyphosis |
OMIM:148050 |
Hereditary Acrokeratotic Poikiloderma |
|
Xerostomia, Oral leukoplakia, Ankyloglossia, Squamous cell carcinoma, Abnormality of the gastroin... |
ORPHA:2907 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Thoracic hypoplasia, Prominent sternum, Pectus excavatum, Macroglossia, Coat hanger sign of ribs |
ORPHA:254528 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Broad clavicles, Microglossia, Failure to thrive, Anteriorly placed anus, Broad ribs, Hemivertebr... |
OMIM:151050 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum morphology, Intussusc... |
ORPHA:512 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption |
OMIM:214950 |
Myhre Syndrome |
|
Platyspondyly, Bifid uvula, Submucous cleft hard palate, Abnormal rib morphology, Cleft palate |
ORPHA:2588 |
Restrictive Dermopathy |
|
Thin ribs, Microcolon, Increased anterioposterior diameter of thorax, Submucous cleft hard palate... |
ORPHA:1662 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Anteriorly placed anus, Broad ribs, Ependymoma, Abnormal thorax mor... |
ORPHA:798 |
Chylomicron Retention Disease |
|
Steatorrhea, Fat malabsorption |
ORPHA:71 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Narrow chest, Abnormality of the costochondral junction, Thoracic hypoplasi... |
ORPHA:96334 |
Tarp Syndrome |
|
Meckel diverticulum, High palate, Glossoptosis, Tongue nodules, Cleft palate |
OMIM:311900 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Colon perforation, Microcolon, Intestinal malrotation, Cervical ribs |
OMIM:600001 |
Smith-Lemli-Opitz Syndrome |
|
Microglossia, Gastroesophageal reflux, Abnormal form of the vertebral bodies, Facial capillary he... |
ORPHA:818 |
Autosomal Recessive Robinow Syndrome |
|
Pectus carinatum, Ankyloglossia, Vertebral segmentation defect, Rib fusion, Ectopic anus, Short n... |
ORPHA:1507 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption |
ORPHA:79302 |
Cancer-Associated Retinopathy |
|
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... |
ORPHA:71505 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Meckel diverticulum, Intestinal malrotation, Patent ductus ... |
OMIM:265380 |
Trisomy 18 |
|
Anal atresia, Esophageal atresia, Abnormal rib morphology, Narrow palate, Cleft palate |
ORPHA:3380 |
Premature Aging Syndrome, Penttinen Type |
|
Thin ribs, Scoliosis, Failure to thrive, Cervical ribs |
OMIM:601812 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Protein-losing enteropathy, High palate |
ORPHA:1655 |
Carney Complex |
|
Follicular thyroid carcinoma, Neoplasm of the pharynx, Ovarian dermoid cyst, Neoplasm of the rect... |
ORPHA:1359 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Macroglossia, Microglossia, Hypoplastic sacrum, Thoracic hemivertebrae, Absent uvula, Rib fusion,... |
OMIM:268310 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Abnormal rib morphology, Mac... |
ORPHA:581 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Narrow chest, 11 pairs of ribs, Short ribs, Cupped ribs, Short neck, Horizontal in... |
OMIM:250220 |
Robinow Syndrome |
|
Ankyloglossia, Kyphoscoliosis, Missing ribs, Rib fusion, Hemivertebrae, Fused thoracic vertebrae,... |
ORPHA:97360 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Abnormal vertebral morphology, Hypoplastic scapulae, Gastroesophageal reflux... |
ORPHA:95699 |
Alagille Syndrome 1 |
|
Failure to thrive, Abnormal rib morphology, Butterfly vertebral arch, Hemivertebrae, Papillary th... |
OMIM:118450 |
Ellis-Van Creveld Syndrome |
|
Pectus carinatum, Narrow chest, Horizontal ribs, Short ribs |
OMIM:225500 |
Monosomy 9P |
|
Abnormality of the vertebral column, Short neck, Abnormal rib morphology, High palate, Scoliosis,... |
ORPHA:261112 |
Zttk Syndrome |
|
Bifid uvula, Failure to thrive, Cervical ribs, Submucous cleft hard palate, Rib fusion, Intestina... |
OMIM:617140 |
Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Meckel diverticulum, Patent ductus arteriosus, Anterio... |
ORPHA:1708 |
Pallister-Hall Syndrome |
|
Microglossia, Anteriorly placed anus, Midline facial capillary hemangioma, Rib fusion, Hypothalam... |
OMIM:146510 |
X-Linked Hypophosphatemia |
|
Rachitic rosary, Sacroiliac joint synovitis, Multiple rib fractures, Enlargement of the costochon... |
ORPHA:89936 |
Malakoplakia |
|
Neoplasm of the colon, Neoplasm of the rectum, Prostate neoplasm |
ORPHA:556 |
Myhre Syndrome |
|
Platyspondyly, Broad ribs, Obesity, Enlarged vertebral pedicles, Short neck, Vertebral fusion, Sm... |
OMIM:139210 |
Pseudo-Torch Syndrome 2 |
|
Thin ribs |
OMIM:617397 |
Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Smooth tongue, Short neck, Scoliosis, Ovoid vertebral bodies |
OMIM:601559 |
Ear-Patella-Short Stature Syndrome |
|
High, narrow palate, Bifid uvula, Aplastic clavicle, Failure to thrive, Submucous cleft hard pala... |
ORPHA:2554 |
Eiken Syndrome |
|
Broad ribs, Decreased body weight |
OMIM:600002 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Hematochezia |
OMIM:618183 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Spina bifida occulta, Short neck, Abnormal rib morphology |
ORPHA:488434 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine |
OMIM:200995 |
Tarp Syndrome |
|
Glossoptosis, Abnormal duodenum morphology, Tongue nodules, Cleft palate |
ORPHA:2886 |
Wolf-Hirschhorn Syndrome |
|
Malrotation of small bowel, Small for gestational age, Abnormal form of the vertebral bodies, Fai... |
OMIM:194190 |
Weill-Marchesani Syndrome 2 |
|
Spinal canal stenosis, Broad ribs, Lumbar hyperlordosis, High palate, Narrow palate, Scoliosis |
OMIM:608328 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Malrotation of small bowel, High palate, Cleft palate |
ORPHA:2953 |
1P36 Deletion Syndrome |
|
Gastroesophageal reflux, Spinal canal stenosis, 11 pairs of ribs, Abnormal intestine morphology, ... |
ORPHA:1606 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Broad ribs, Obesity, Hyperlordosis, Cleft palate |
OMIM:301066 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Thin ribs, Failure to thrive, Fused cervical vertebrae, Cleft vertebral arch, Long clavicles, Cle... |
ORPHA:83617 |
Alpha-Mannosidosis, Infantile Form |
|
Platyspondyly, Pectus carinatum, Recurrent gastroenteritis, Short neck, Pectus excavatum, Macrogl... |
ORPHA:309282 |
Zygomycosis |
|
Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Ileitis, Gastritis, Enterocolitis, ... |
ORPHA:73263 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Horizontal ribs, Short ribs, Lateral clavicle hook |
OMIM:208500 |
Oculocerebrorenal Syndrome Of Lowe |
|
Platyspondyly, Neoplasm of the skin, Odontogenic neoplasm, Failure to thrive, Benign neoplasm of ... |
ORPHA:534 |
Ulbright-Hodes Syndrome |
|
Thin ribs, Short ribs, Short sternum, Short neck, Ovoid thoracolumbar vertebrae, Abnormal rib mor... |
ORPHA:3404 |
Osteogenesis Imperfecta, Type Vii |
|
Narrow chest, Multiple rib fractures, Pectus excavatum, Vertebral compression fracture, Scoliosis |
OMIM:610682 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Narrow chest, Horizontal ribs, Short ribs, Aplasia of the epiglottis, Short clavicles, Hamartoma |
OMIM:617088 |
Fanconi Anemia |
|
Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Azoospermia, Aganglionic... |
ORPHA:84 |
Femoral-Facial Syndrome |
|
Absent vertebra, Gastroesophageal reflux, Dysplastic sacrum, 11 pairs of ribs, Missing ribs, Rib ... |
OMIM:134780 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Progressive congenital scoliosis, Platyspondyly, Gastrointestinal hemorrhage, Thin ribs, Kyphosco... |
OMIM:225400 |
Fetal Akinesia Deformation Sequence 1 |
|
High, narrow palate, Thin ribs, Thoracic hypoplasia, Short neck, High palate, Small for gestation... |
OMIM:208150 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Hiatus hernia, Abnormal duodenum morphology, High palate, Cleft palate |
OMIM:601776 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Pectus carinatum, Broad clavicles, Broad ribs, Barrel-shaped chest, Pilonidal sinus, Short neck, ... |
OMIM:276820 |
Autosomal Recessive Polycystic Kidney Disease |
|
Protein-losing enteropathy, Gastrointestinal hemorrhage, Hepatoblastoma, Cholangiocarcinoma, Fat ... |
ORPHA:731 |
Cranioectodermal Dysplasia 2 |
|
Narrow chest, Horizontal ribs, Short ribs, Short neck, Pectus excavatum, High palate, Cleft palate |
OMIM:613610 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Abnormality of the anus, Cleft palate |
OMIM:219000 |
Baller-Gerold Syndrome |
|
Abnormal vertebral morphology, Bifid uvula, Anteriorly placed anus, Perineal fistula, Midface cap... |
OMIM:218600 |
Fraser Syndrome |
|
Anal stenosis, Anorectal anomaly, Vertebral segmentation defect, Ectopic anus, Anal atresia, Abno... |
ORPHA:2052 |
Charge Syndrome |
|
Gastroesophageal reflux, Tracheoesophageal fistula, Hemivertebrae, Abnormal rib morphology, Abnor... |
ORPHA:138 |
Craniotubular Dysplasia, Ikegawa Type |
|
Platyspondyly, Broad ribs, Increased intervertebral space |
OMIM:619727 |
Cardiospondylocarpofacial Syndrome |
|
Failure to thrive, Herniation of intervertebral nuclei, Rib fusion, Scoliosis, Fused cervical ver... |
OMIM:157800 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Undulate ribs, Short clavicles, Short neck, Pectus excavatum, High palate |
OMIM:609945 |
Charge Syndrome |
|
Anal stenosis, Down-sloping shoulders, Tracheoesophageal fistula, Esophageal atresia, Hemivertebr... |
OMIM:214800 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal vertebral morphology, Macroglossia, Spinal canal stenosis, Thickened ribs |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal vertebral morphology, Macroglossia, Spinal canal stenosis, Thickened ribs |
ORPHA:217093 |
Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Patent ductus arteriosus, Cleft palate |
OMIM:274000 |
Townes-Brocks Syndrome |
|
Abnormal vertebral morphology, Anteriorly placed anus, Rectoperineal fistula, Abnormal rib morpho... |
ORPHA:857 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Small bowel diverticula, Pyloric stenosis |
ORPHA:90349 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Bifid uvula, Cervical ribs, Failure to thrive in infancy, Lumbar hyperlordosis, Submucous cleft s... |
ORPHA:500150 |
Trisomy 8P |
|
Bifid uvula, Malrotation of small bowel, Cleft palate |
ORPHA:264450 |
Osteopetrosis With Renal Tubular Acidosis |
|
Prominent floating ribs, Pectus excavatum, High palate, Failure to thrive |
ORPHA:2785 |
Viss Syndrome |
|
High, narrow palate, Bifid uvula, Gastroesophageal reflux, Broad uvula, Celiac disease, Intestina... |
OMIM:619472 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Thin ribs, Pectus excavatum, High palate, Supernumerary ribs |
OMIM:619127 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:991 |
Coccidioidomycosis |
|
Broad ribs, Abnormality of the vertebral column |
ORPHA:228123 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bifid uvula, Obesity, 11 pairs of ribs, Submucous cleft hard palate, Rib fusion, Abnormality of t... |
OMIM:607872 |
Liver Disease, Severe Congenital |
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Protein-losing enteropathy, Patent ductus arteriosus, Chronic gastritis |
OMIM:619991 |
Autosomal Recessive Malignant Osteopetrosis |
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Narrow chest, Abnormal rib morphology |
ORPHA:667 |
Wiedemann-Rautenstrauch Syndrome |
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Thin ribs, Narrow chest, Failure to thrive, Short neck, Scoliosis, Small for gestational age |
OMIM:264090 |
Pallister-Hall Syndrome |
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Bifid uvula, Microglossia, Large for gestational age, Midline facial capillary hemangioma, Osteoc... |
ORPHA:672 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Pulmonary carcinoid tumor, Ne... |
ORPHA:99889 |
Osteopetrosis, Autosomal Recessive 7 |
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Multiple rib fractures |
OMIM:612301 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Narrow palate, Exaggerated median tongue furrow, Meckel diverticulum, Intestinal malrotation, Hep... |
OMIM:312870 |
Plague |
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Inflammation of the large intestine, Ileitis, Enterocolitis, Hematemesis, Glossitis |
ORPHA:707 |
Genitopatellar Syndrome |
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Malrotation of small bowel, Anal stenosis, Anteriorly placed anus, Anal atresia, Dysphagia |
OMIM:606170 |
Autosomal Dominant Cutis Laxa |
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Small bowel diverticula |
ORPHA:90348 |