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 |
|
Hyperplastic colonic polyposis, Colon cancer, Adenomatous colonic polyposis, Juvenile colonic pol... |
OMIM:610069 |
Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
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 |
|
Breast carcinoma, Desmoid tumors, Colon cancer, Colorectal polyposis |
OMIM:135290 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
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 |
|
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia |
OMIM:246470 |
Paraganglioma And Gastric Stromal Sarcoma |
|
Paraganglioma, Neoplasm of the gastrointestinal tract |
OMIM:606864 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Desmoid tumors, Large intestinal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:247798 |
Anal Canal Carcinoma |
|
Anal canal squamous carcinoma |
OMIM:105580 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Serrated Polyposis Syndrome |
|
Melanoma, Prostate cancer, Breast carcinoma, Biliary tract neoplasm, Bladder carcinoma, Colorecta... |
ORPHA:157798 |
Lynch Syndrome 8 |
|
Adenomatous colonic polyposis, Endometrial carcinoma, Colon cancer, Hereditary nonpolyposis color... |
OMIM:613244 |
Mismatch Repair Cancer Syndrome 4 |
|
Colon cancer, Non-Hodgkin lymphoma, Astrocytoma, Adenomatous colonic polyposis, Glioblastoma mult... |
OMIM:619101 |
Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps, Abnormal gastric mucosa morphology |
OMIM:175505 |
Colorectal Cancer |
|
Renal cell carcinoma, Neoplasm of the stomach, Uterine leiomyosarcoma, Hereditary nonpolyposis co... |
OMIM:114500 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Papilloma, Colon cancer, Juvenile gastrointestinal polyposis, Multiple ga... |
ORPHA:480536 |
Li-Fraumeni Syndrome 2 |
|
Glioma, Meningioma, Breast carcinoma, Stomach cancer, Sarcoma |
OMIM:609265 |
Attenuated Familial Adenomatous Polyposis |
|
Papilloma, Colorectal polyposis, Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Fibrom... |
ORPHA:220460 |
Colorectal Cancer, Susceptibility To, 10 |
|
Colorectal polyposis, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma |
OMIM:612591 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Hereditary Mixed Polyposis Syndrome |
|
Neoplasm of the rectum, Hyperplastic colonic polyposis, Hematochezia, Juvenile colonic polyposis,... |
ORPHA:157794 |
Birt-Hogg-Dube Syndrome |
|
Cutaneous leiomyoma, Renal neoplasm, Renal cell carcinoma, Trichodiscoma, Colon cancer, Large int... |
OMIM:135150 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Neoplasm of the rectum, Brain neoplasm, Breast carcinoma, Colorectal polyposis, Adenomatous colon... |
ORPHA:447877 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Multiple gastric polyps, Duodenal polyposis, Small intestinal polyposis, Adenomatou... |
ORPHA:329971 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Ganglioneuroma |
|
Multiple intestinal neurofibromatosis, Colorectal polyposis, Ganglioneuroma, Hamartomatous polypo... |
ORPHA:251992 |
Familial Adenomatous Polyposis 3 |
|
Bladder neoplasm, Colon cancer, Meningioma, Prostate cancer, Breast carcinoma, Pancreatic adenoca... |
OMIM:616415 |
Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, Colon cancer, T-cell acute lymphoblastic leukemias |
OMIM:619096 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Gastric adenocarcinoma, Melena, Fundic gland polyposis |
OMIM:619182 |
Nk-Cell Enteropathy |
|
Lymphoproliferative disorder, Gastric ulcer, Intestinal polyp, Gastroesophageal reflux, Hematoche... |
ORPHA:263665 |
Familial Adenomatous Polyposis 4 |
|
Gastric adenocarcinoma, Duodenal polyposis, Astrocytoma, Uterine leiomyoma, Thyroid adenoma, Aden... |
OMIM:617100 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Bladder neoplasm, Neoplasm of the rectum, Seborrheic keratosis, Colon cancer, Meningioma, Breast ... |
ORPHA:454840 |
Desmoid Tumor |
|
Malabsorption, Intestinal obstruction, Fibroma, Gastrointestinal hemorrhage, Neoplasm of the skin... |
ORPHA:873 |
Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Intestinal obstruction, Functional abnormality of the gastrointest... |
ORPHA:388 |
Li-Fraumeni Syndrome |
|
Acute lymphoblastic leukemia, Colorectal polyposis, Astrocytoma, Neoplasm of the central nervous ... |
ORPHA:524 |
Muir-Torre Syndrome |
|
Renal neoplasm, Adenoma sebaceum, Malignant genitourinary tract tumor, Neoplasm of the liver, Col... |
ORPHA:587 |
Tumor Predisposition Syndrome 2 |
|
Colon cancer, Meningioma, Juvenile type ovarian granulosa cell tumor, Uveal melanoma, Schwannoma,... |
OMIM:619975 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... |
ORPHA:247806 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormal rib morphology, Pectus carinatum, Scoliosis |
ORPHA:3268 |
Cronkhite-Canada Syndrome |
|
Neoplasm, Colon cancer, Furrowed tongue, Malabsorption, Stomach cancer, Hamartomatous polyposis, ... |
ORPHA:2930 |
Carcinoma Of Esophagus |
|
Gastroesophageal reflux, Abnormal intestine morphology, Dysphagia, Esophageal neoplasm, Barrett e... |
ORPHA:70482 |
Cowden Syndrome 7 |
|
Hemangioma, Papilloma, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... |
OMIM:616858 |
Isolated Klippel-Feil Syndrome |
|
Anal atresia, Scoliosis, Abnormal sacrum morphology, Short neck, Abnormality of the vertebral col... |
ORPHA:2345 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Hemivertebrae, Vertebral clefting, Rib fusion, Vertebral segmentation defect |
OMIM:608681 |
Barrett Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Esophageal ulceration, Esophageal carcinoma |
OMIM:614266 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Multiple Intestinal Atresia |
|
Duodenal stenosis, Gastrointestinal atresia |
ORPHA:2300 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Hypoplasia of the odontoid pro... |
OMIM:609813 |
Gardner Syndrome |
|
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... |
ORPHA:79665 |
Juvenile Nasopharyngeal Angiofibroma |
|
Juvenile colonic polyposis, Juvenile nasopharyngeal angiofibroma |
ORPHA:289596 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal sacrum morphology, Scoliosis, Short neck, Missing ribs, Cleft palate, Abnormal rib morph... |
ORPHA:1797 |
Muir-Torre Syndrome |
|
Benign gastrointestinal tract tumors, Benign genitourinary tract neoplasm, Adenoma sebaceum, Mali... |
OMIM:158320 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Sprengel Deformity |
|
Scoliosis, Hemivertebrae, Cervical segmentation defect, Rib segmentation abnormalities, Spina bif... |
OMIM:184400 |
Spondylocostal Dysostosis 5 |
|
Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Missing ribs, Hemive... |
OMIM:122600 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyoma, Multiple cutaneous leiomyomas, Papillary renal cell carcinoma type 2, Uterin... |
ORPHA:523 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal rib morphology, Narrow chest, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Endosteal Hyperostosis, Worth Type |
|
Abnormal rib morphology, Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the ver... |
ORPHA:2790 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Papilloma, Neoplasm of the liver, Neoplasm of the lung, Anal canal squamo... |
ORPHA:424019 |
Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Scoliosis, Irregular chondrocostal junctions, Slender build, Irregular vertebral... |
OMIM:187760 |
Lynch Syndrome |
|
Hepatocellular carcinoma, Neoplasm of the rectum, Neoplasm of the thyroid gland, Colon cancer, Ma... |
ORPHA:144 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Abnormal intestine morphology, Protein-losing enteropathy, Duodenitis, Esophagitis, Gastritis, Pa... |
OMIM:619079 |
Familial Adenomatous Polyposis 1 |
|
Carcinoma, Adrenocortical adenoma, Colon cancer, Small intestine carcinoid, Multiple gastric poly... |
OMIM:175100 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis, Patent ductus arteriosus |
ORPHA:2978 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Abnormal esophagus physiology, Gastroesophageal reflux, Dysphagia, Gastrointestinal hemorrhage, A... |
ORPHA:2198 |
Kyphomelic Dysplasia |
|
Lateral clavicle hook, Missing ribs, Anterior rib cupping, Undulate ribs, Narrow chest, Short tho... |
ORPHA:1801 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Short neck, Hemivertebrae, Back pain, Rib ... |
OMIM:277300 |
Metatropic Dysplasia |
|
Scoliosis, Long thorax, Kyphosis, Cleft palate, Abnormal rib morphology, Narrow chest, Hypoplasti... |
ORPHA:2635 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Colon cancer, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Osteo... |
OMIM:151623 |
Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Colon cancer, Glioblastoma multiforme, Astrocytoma, Lymphoma, Lisch nodul... |
OMIM:619097 |
Turcot Syndrome With Polyposis |
|
Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Basal cell carcinoma, Adenomatous coloni... |
ORPHA:99818 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Tracheoesophageal fistula, Intestinal atresia, Abnormal form of the vert... |
ORPHA:93941 |
Lynch Syndrome 4 |
|
Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma |
OMIM:614337 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Adenocarcinoma of the small intestine, Leukemia, Non-Hodgkin lymphoma, A... |
OMIM:276300 |
Visceral Myopathy 2 |
|
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Hiatus hernia, Volvulus, Intestina... |
OMIM:619350 |
Familial Adenomatous Polyposis |
|
Adenocarcinoma of the small intestine, Colorectal polyposis, Astrocytoma, Papillary thyroid carci... |
ORPHA:733 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Short neck, Obesity, Abnormal rib morphology, Hemivertebrae, Abnormal form of ... |
ORPHA:2234 |
Mosaic Trisomy 14 |
|
High palate, Short neck, Cleft palate, Abnormal rib morphology, Failure to thrive, Ectopic anus, ... |
ORPHA:1703 |
Diaphanospondylodysostosis |
|
Enlarged thorax, Absent or minimally ossified vertebral bodies, Short neck, Missing ribs, Cleft p... |
ORPHA:66637 |
Juvenile Polyposis Syndrome |
|
Rectal polyposis, Intestinal polyp, Juvenile colonic polyposis, Hematochezia, Colon cancer, Neopl... |
ORPHA:2929 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Steatorrhea, Fat malabsorption |
OMIM:613291 |
Oligodontia-Colorectal Cancer Syndrome |
|
Breast carcinoma, Adenomatous colonic polyposis, Colon cancer, Fundic gland polyposis |
OMIM:608615 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Abnormality of the gastrointestinal tract, Neoplasm, Renal cell carcinoma... |
ORPHA:2869 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Pectus excavatum, Scoliosis, Vertebral fusion, Abnormality of the odontoid process, Short neck, M... |
OMIM:613686 |
Cowden Syndrome 6 |
|
High palate, Scoliosis, Pectus excavatum, Meningioma, Breast carcinoma, Kyphosis, Hamartomatous p... |
OMIM:615109 |
Cowden Syndrome 5 |
|
High palate, Scoliosis, Pectus excavatum, Meningioma, Breast carcinoma, Kyphosis, Hamartomatous p... |
OMIM:615108 |
Lymphangiectasia, Intestinal |
|
Malabsorption, Intestinal lymphangiectasia, Prominent floating ribs |
OMIM:152800 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colore... |
OMIM:614350 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Increased mitochondrial number |
OMIM:619063 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the rectum, Intestinal obstruction, Neoplasm of the stomach, Dysphagia, Gastrointesti... |
ORPHA:44890 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption |
OMIM:221400 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
Cowden Syndrome 1 |
|
High palate, Scoliosis, Carcinoma, Pectus excavatum, Meningioma, Breast carcinoma, Kyphosis, Ovar... |
OMIM:158350 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hemangioma, Intestinal polyp, Lactose intolerance |
ORPHA:457485 |
Becker Nevus Syndrome |
|
Pectus excavatum, Scoliosis, Kyphosis, Pectus carinatum, Hamartoma, Spina bifida occulta, Supernu... |
ORPHA:64755 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Scoliosis, Pectus excavatum, Kyphosis, Platyspondyly, Pectus carinatum |
OMIM:259440 |
Septopreoptic Holoprosencephaly |
|
Dysphagia, Abnormal rib morphology, Abnormal vertebral morphology, Anteriorly placed anus |
ORPHA:280195 |
Peutz-Jeghers Syndrome |
|
Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Neoplasm of the pancreas, Multiple ... |
OMIM:175200 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Pectus excavatum, Neoplasm, Neoplasm of the adrenal cortex, Uterine neoplasm, Scoliosis, Meningio... |
ORPHA:109 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Steatorrhea, Decreased intestinal transit time, Intestinal ... |
OMIM:615237 |
Familial Multinodular Goiter |
|
Renal cell carcinoma, Pleuropulmonary blastoma, Testicular seminoma, Colorectal polyposis, Piloma... |
ORPHA:276399 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
High palate, Scoliosis, Obesity, Hemivertebrae, Abnormal rib morphology, Sprengel anomaly, Abnorm... |
ORPHA:2180 |
Aicardi Syndrome |
|
Gastroesophageal reflux, Scoliosis, Butterfly vertebrae, Malabsorption, Hiatus hernia, Missing ri... |
ORPHA:50 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Thoracic dysplasia, Horizontal ribs, Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Obe... |
OMIM:615633 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Glossitis, Hematochezia, Malabsorption, Xerostomia, Protein-losing enteropathy, Hamartomatous pol... |
OMIM:175500 |
Hirschsprung Disease, Susceptibility To, 3 |
|
Long-segment aganglionic megacolon, Total colonic aganglionosis, Aganglionic megacolon |
OMIM:613711 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Abnormal rib morphology, Pectus excavatum, Hypoplastic distal segments of scapulae, Cleft palate |
OMIM:602196 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Fat malabsorption |
OMIM:614338 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Vertebral segmentation defect, Short neck |
ORPHA:2578 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Renal cortical adenoma, Papillary renal cell carcinoma, Colon cancer, Breast carcinoma, Papillary... |
ORPHA:97290 |
Becker Nevus Syndrome |
|
Hemivertebrae, Pectus excavatum, Scoliosis, Cervical ribs |
OMIM:604919 |
Cap Polyposis |
|
Atrophic gastritis, Colorectal polyposis, Hematochezia |
ORPHA:160148 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Pectus excavatum, Short neck, Kyphosis, Abnormal rib morphology, Abnormal clavicle morphology, Fu... |
ORPHA:2522 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Abnormal small intestine morphology |
ORPHA:100025 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Axial Mesodermal Dysplasia Spectrum |
|
Anal atresia, Gastroesophageal reflux, Abnormal intestine morphology, Scoliosis, Short neck, Miss... |
ORPHA:1834 |
Secondary Short Bowel Syndrome |
|
Malabsorption, Steatorrhea, Volvulus, Villous atrophy, Aganglionic megacolon, Abnormal small inte... |
ORPHA:95427 |
Metatropic Dysplasia |
|
Long coccyx, Scoliosis, Short ribs, Cupped ribs, Relatively short spine, Anisospondyly, Kyphosis,... |
OMIM:156530 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Patent ductus arteriosus, Intestinal malr... |
OMIM:300048 |
Basal Cell Nevus Syndrome 1 |
|
Scoliosis, Odontogenic keratocysts of the jaw, Vertebral wedging, Cleft palate, Basal cell carcin... |
OMIM:109400 |
Cat-Eye Syndrome |
|
Abnormal rib morphology, Anal atresia |
ORPHA:195 |
Mccune-Albright Syndrome |
|
Intestinal polyposis, Pituitary adenoma |
OMIM:174800 |
Prune Belly Syndrome |
|
Anal atresia, Scoliosis, Pectus excavatum, Volvulus, Abnormal rib morphology, Intestinal atresia,... |
ORPHA:2970 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Scoliosis, Short thorax, Short neck, Kyphosis, Cleft palate, Abnormal rib morphology, Rib segment... |
ORPHA:2311 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Short ribs, Horizontal ribs, Narrow chest, Lateral clavicle hook |
OMIM:617405 |
Poland Syndrome |
|
Hemivertebrae, Short ribs, Sprengel anomaly, Rib fusion |
OMIM:173800 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Scoliosis, Short neck, Cleft palate, Abnormal rib morphology, Abnormal vertebral segmentation and... |
OMIM:118100 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Thoracic hypoplasia, Scoliosis, Posterior wedging of vertebral bo... |
ORPHA:168549 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Short neck, Platyspondyly, Abnormal rib morphology, Narrow chest, Abnormal clavicle morphology |
ORPHA:93267 |
Benign Schwannoma |
|
Vestibular schwannoma, Abnormal parotid gland morphology, Scleral schwannoma, Schwannoma, Periphe... |
ORPHA:252164 |
Vascular Hyalinosis |
|
Malabsorption, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
Cowden Syndrome |
|
Adenoma sebaceum, Scoliosis, Cavernous hemangioma, Meningioma, Colorectal polyposis, Fibroma, Neo... |
ORPHA:201 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
Familial Melanoma |
|
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast, Neoplasm of the stomach |
ORPHA:618 |
Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Short ribs, Platyspondyly, Bell-shaped thorax, Cupped ribs |
OMIM:614524 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillus inclusions, Villous atrophy, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Aplasia/Hypoplasia of the tongue, Missing ribs, Hemivertebrae, Abnormal rib morphology, Abnormal ... |
ORPHA:2759 |
Juvenile Polyposis Of Infancy |
|
Hemangioma, Hematochezia, Protein-losing enteropathy, High, narrow palate, Hamartomatous polyposi... |
ORPHA:79076 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Anal atresia, Scoliosis, Vertebral fusion, Supernumerary vertebrae, Short neck, Short ribs, Missi... |
OMIM:271520 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Femoral-Facial Syndrome |
|
Abnormal sacrum morphology, Scoliosis, Cleft palate, Abnormal rib morphology, Sprengel anomaly, R... |
ORPHA:1988 |
Diastrophic Dysplasia |
|
Scoliosis, Kyphosis, Visceral angiomatosis, Cleft palate, Abnormal rib morphology, Abnormal clavi... |
ORPHA:628 |
Juberg-Hayward Syndrome |
|
Abnormal rib morphology, Scoliosis, Abnormal vertebral morphology, Anteriorly placed anus |
ORPHA:2319 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal rib morphology, Abnormally ossified vertebrae, Intestinal malrotation |
ORPHA:3035 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Scoliosis, Irregular vertebral endplates, Short neck, Thin ribs, Platyspondyly, Narrow vertebral ... |
OMIM:618395 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Scoliosis, Anterior rib cupping, Cleft palate, Platyspondyly, Pectus carinatum, C1-C2 subluxation... |
OMIM:184250 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Abnormality of the vertebral column, Abnormal rib morphology, Sprengel anomaly, Cleft palate |
OMIM:601076 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Thoracolumbar scoliosis, Anal atresia, Cervical ribs, Sprengel anomaly |
OMIM:601389 |
Hypercholanemia, Familial 1 |
|
Steatorrhea, Fat malabsorption |
OMIM:607748 |
Fibrochondrogenesis |
|
Short neck, Short ribs, Broad ribs, Hypoplastic scapulae, Cleft palate, Abnormal rib morphology, ... |
ORPHA:2021 |
Mosaic Variegated Aneuploidy Syndrome |
|
Neoplasm, Duodenal atresia, Colon cancer, Acute lymphoblastic leukemia, Myelodysplasia, Cleft pal... |
ORPHA:1052 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Scoliosis, Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Beaking of vertebr... |
OMIM:609616 |
Jeune Syndrome |
|
Abnormal rib morphology, Narrow chest, Abnormal clavicle morphology, Short thorax, Abnormal stern... |
ORPHA:474 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Colon cancer, Multiple gastric polyps, Neoplasm of the stomach, Intussusception, Re... |
OMIM:174900 |
Campomelia, Cumming Type |
|
Abnormal intestine morphology, Myelodysplasia, Cleft palate, Abnormal rib morphology, Abnormal th... |
ORPHA:1318 |
Achondrogenesis Type 1B |
|
Abnormal rib morphology, Narrow chest, Short thorax, Short neck |
ORPHA:93298 |
Cooper-Jabs Syndrome |
|
Abnormal rib morphology, Missing ribs, Scoliosis, Anteriorly placed anus |
ORPHA:1488 |
Osteogenesis Imperfecta, Type Ii |
|
Thoracic hypoplasia, Beaded ribs, Small for gestational age, Thin ribs, Platyspondyly, Bell-shape... |
OMIM:166210 |
Neuroblastoma, Susceptibility To, 2 |
|
Ganglioneuroblastoma, Neuroblastoma, Aganglionic megacolon, Ganglioneuroma |
OMIM:613013 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Three M Syndrome 2 |
|
High palate, Small for gestational age, Lumbar hyperlordosis, Short neck, Thin ribs, Scapular win... |
OMIM:612921 |
Schneckenbecken Dysplasia |
|
Thoracic hypoplasia, Lateral clavicle hook, Ovoid vertebral bodies, Short neck, Short ribs, Anter... |
OMIM:269250 |
Pten Hamartoma Tumor Syndrome |
|
Hemangioma, Neoplasm, Renal cell carcinoma, Papilloma, Colon cancer, Breast carcinoma, Ganglioneu... |
ORPHA:306498 |
Gastrointestinal Stromal Tumor |
|
Neurofibroma, Gastrointestinal stroma tumor, Intestinal obstruction, Dysphagia |
OMIM:606764 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Steatorrhea, Villous atrophy, Abnormal large intestinal mucosa morph... |
ORPHA:92050 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal form of the vertebral bodies, Abnormal rib morphology, Short neck |
ORPHA:1486 |
Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:1836 |
Renpenning Syndrome |
|
Anal atresia, Pectus excavatum, High, narrow palate, Cleft palate, Abnormal rib morphology, Spren... |
ORPHA:3242 |
Meconium Ileus |
|
Meconium ileus, Microcolon |
OMIM:614665 |
Familial Colorectal Cancer Type X |
|
Hepatocellular carcinoma, Neoplasm of the rectum, Neoplasm of the thyroid gland, Renal neoplasm, ... |
ORPHA:440437 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Cartilage-Hair Hypoplasia |
|
Esophageal atresia, Scoliosis, Lumbar hyperlordosis, Malabsorption, Asymmetry of the thorax, Agan... |
OMIM:250250 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Anal canal adenocarcinoma, Neoplasm of the liver, Neoplasm of the lung, I... |
ORPHA:424016 |
White Forelock With Malformations |
|
Abnormal rib morphology, Spina bifida occulta, Sprengel anomaly |
ORPHA:2475 |
Acro-Renal-Mandibular Syndrome |
|
High palate, Scoliosis, Aplasia/Hypoplasia of the tongue, Butterfly vertebrae, Short neck, Thin r... |
ORPHA:958 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Hematochezia, Malabsorption, Steatorrhea, Protein-losi... |
ORPHA:2070 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:276422 |
Mucopolysaccharidosis, Type X |
|
Scoliosis, Spatulate ribs, Broad ribs, Broad clavicles, Platyspondyly, Posterior scalloping of ve... |
OMIM:619698 |
Carney-Stratakis Syndrome |
|
Intestinal obstruction, Dysphagia, Paraganglioma, Gastrointestinal hemorrhage, Gastrointestinal s... |
ORPHA:97286 |
Mucopolysaccharidosis, Type Iva |
|
Scoliosis, Short neck, Ovoid vertebral bodies, Cervical subluxation, Kyphosis, Platyspondyly, Pro... |
OMIM:253000 |
Holt-Oram Syndrome |
|
Down-sloping shoulders, Pectus excavatum, Scoliosis, Kyphosis, Abnormal rib morphology, Abnormal ... |
ORPHA:392 |
Osteogenesis Imperfecta, Type Xvi |
|
Beaded ribs, Small for gestational age, Vertebral compression fracture, Platyspondyly, Narrow che... |
OMIM:616229 |
Hereditary Hemorrhagic Telangiectasia |
|
Cavernous hemangioma, Visceral angiomatosis, Esophageal varix, Gastrointestinal hemorrhage, Intes... |
ORPHA:774 |
Grant Syndrome |
|
Abnormal rib morphology, Narrow chest, Sprengel anomaly, Abnormality of the glenoid fossa |
ORPHA:2097 |
Medulloblastoma |
|
Neoplasm of the lung, Cerebellar medulloblastoma, Spinal cord tumor, Adenomatous colonic polyposi... |
ORPHA:616 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
High palate, Osteoma, Colon cancer, Short neck, Duodenal polyposis, Hepatoblastoma, Adenomatous c... |
ORPHA:261584 |
Achondrogenesis, Type Ia |
|
Beaded ribs, Short thorax, Short neck, Short ribs, Flaring of rib cage, Hypoplastic scapulae, Sho... |
OMIM:200600 |
Mucopolysaccharidosis Type 6 |
|
Macroglossia, Ovoid vertebral bodies, Short neck, Broad ribs, Kyphosis, Failure to thrive |
ORPHA:583 |
Mucopolysaccharidosis Type 4 |
|
Scoliosis, Short neck, Kyphosis, Platyspondyly, Abnormal rib morphology, Spinal canal stenosis, P... |
ORPHA:582 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Adenocarcinoma of the colon, Renal cell carcinoma, Melanoma, Adenocarcinoma of the small intestin... |
ORPHA:79501 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Scoliosis, Ovoid vertebral bodies, Severe platyspondyly, Platyspondyly, Cupped ribs |
OMIM:608940 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Abnormal rib morphology |
ORPHA:93351 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Thoracic hypoplasia, Pectus excavatum, Lumbar hyperlordosis, Ovoid vertebral bodies, Platyspondyl... |
OMIM:608728 |
Pancreatic Colipase Deficiency |
|
Steatorrhea, Fat malabsorption |
ORPHA:309108 |
Dyggve-Melchior-Clausen Disease |
|
Abnormality of the vertebral endplates, Horizontal inferior border of scapula, Short neck, Abnorm... |
ORPHA:239 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal rib morphology, Tracheoesophageal fistula, Pectus carinatum, Hyperlordosis |
ORPHA:3068 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thoracic hypoplasia, Ovoid vertebral bodies, Short neck, Short ribs, Severe platyspondyly, Disc-l... |
OMIM:151210 |
Hypophosphatasia |
|
Abnormal rib morphology, Failure to thrive in infancy, Narrow chest |
ORPHA:436 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Narrow chest, Short thorax, Short neck |
ORPHA:93299 |
Sacral Agenesis With Vertebral Anomalies |
|
Anal atresia, Persistent cloaca, Absence of the sacrum, Vertebral clefting, Abnormal vertebral mo... |
OMIM:615709 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Duodenal stenosis, Patent ductus arteriosus |
ORPHA:2547 |
Shwachman-Diamond Syndrome 1 |
|
Enlargement of the costochondral junction, Small for gestational age, Ovoid vertebral bodies, Ste... |
OMIM:260400 |
Cerebrofaciothoracic Dysplasia |
|
Scoliosis, Short neck, Cleft palate, Hemivertebrae, Bifid ribs, Narrow chest, Sprengel anomaly, R... |
ORPHA:1394 |
Tylosis With Esophageal Cancer |
|
Oral leukoplakia, Esophageal carcinoma |
OMIM:148500 |
Mitchell-Riley Syndrome |
|
Anteriorly placed anus, Duodenal atresia, Malabsorption, Jejunal atresia, Intestinal malrotation,... |
OMIM:615710 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Thoracic hypoplasia, Beaded ribs, Small for gestational age, Short neck, Short ribs, Cleft palate... |
OMIM:616897 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
3M Syndrome |
|
Horizontal ribs, Scoliosis, Enlarged thorax, Short neck, Increased vertebral height, Thin ribs, K... |
ORPHA:2616 |
Osteogenesis Imperfecta, Type X |
|
Thoracic hypoplasia, Scoliosis, Pyloric stenosis, Broad ribs, Thin ribs, Vertebral compression fr... |
OMIM:613848 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Thoracic hypoplasia, Anal atresia, Scoliosis, Horizontal ribs, Lateral clavicle hook, Short ribs,... |
OMIM:613091 |
Lethal Kniest-Like Dysplasia |
|
Short neck, Coronal cleft vertebrae, Short ribs, Hypoplastic vertebral bodies, Anterior rib cuppi... |
ORPHA:2347 |
Disorder Of Bile Acid Synthesis |
|
Fat malabsorption |
ORPHA:79168 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical vertebral dysplasia, Gastroesophageal reflux, Butterfly vertebrae, Cervical spine instab... |
ORPHA:79345 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal rib morphology, Pectus carinatum, Kyphosis, Short neck |
ORPHA:3082 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Gastrointestinal carcinoma, Hematoc... |
OMIM:175050 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Cupped ribs, Short ribs, High palate, Kyphoscoliosis |
ORPHA:1145 |
Fibrochondrogenesis 1 |
|
Thoracic hypoplasia, Short neck, Long clavicles, Short ribs, Posterior vertebral hypoplasia, Thin... |
OMIM:228520 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Intestinal malrotation, Microcolon |
OMIM:619431 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Abnormal rib morphology, Bifid tongue, Abnormally... |
ORPHA:2167 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Protein-losing enteropathy |
ORPHA:79327 |
Monosomy 9Q22.3 |
|
Cardiac fibroma, Pectus excavatum, Medulloblastoma, Short neck, Abnormality of the vertebral colu... |
ORPHA:77301 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Colonic Atresia |
|
Colonic atresia, Peptic ulcer, Duodenal stenosis |
ORPHA:1198 |
Alg6-Cdg |
|
Macroglossia, Protein-losing enteropathy |
ORPHA:79320 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Platyspondyly, Thin ribs, 11 pairs of ribs |
OMIM:300863 |
Vacterl/Vater Association |
|
Anal atresia, Abnormal sacrum morphology, Cavernous hemangioma, Cleft palate, Abnormal rib morpho... |
ORPHA:887 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
High palate, Thoracic kyphosis, Short neck, Thin ribs, Anterior rib cupping, Platyspondyly, Promi... |
OMIM:300232 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Intestinal polyposis |
ORPHA:276413 |
Achondrogenesis, Type Ii |
|
Horizontal ribs, Short ribs, Cleft palate, Barrel-shaped chest, Absent vertebral body mineralization |
OMIM:200610 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Hypoperistalsis, Neoplasm of the heart, Intestinal mal... |
ORPHA:2241 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs |
OMIM:122860 |
Trigonocephaly 1 |
|
Meckel diverticulum, High, narrow palate |
OMIM:190440 |
Thoraco-Abdominal Enteric Duplication |
|
Duodenal stenosis, Intestinal malrotation |
ORPHA:1759 |
Melnick-Needles Syndrome |
|
Scoliosis, Short clavicles, Anisospondyly, Abnormal rib morphology, Narrow chest, Short thorax |
ORPHA:2484 |
Dysosteosclerosis |
|
High palate, Irregular vertebral endplates, Short ribs, Hypoplastic vertebral bodies, Broad ribs,... |
OMIM:224300 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pectus excavatum, Unilateral cleft palate, Six lumbar vertebrae, Submucous cleft hard palate, Sca... |
OMIM:619122 |
Trisomy 13 |
|
Scoliosis, Capillary hemangioma, Kyphosis, High, narrow palate, Cleft palate, Abnormal rib morpho... |
ORPHA:3378 |
Dyggve-Melchior-Clausen Disease |
|
Enlargement of the costochondral junction, Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Sh... |
OMIM:223800 |
Mungan Syndrome |
|
Intestinal pseudo-obstruction, Hypoperistalsis, Barrett esophagus, Megaduodenum |
OMIM:611376 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Thoracic dysplasia, Horizontal ribs, Lateral clavicle hook, Short ribs, Cleft palate, Platyspondy... |
OMIM:263520 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology |
ORPHA:2643 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Duodenal atresia, Jejunal atresia, Tracheoesophageal fistula, Intestinal m... |
OMIM:601346 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology, Cleft palate |
ORPHA:2145 |
Poland Syndrome |
|
Scoliosis, Short neck, Short ribs, Missing ribs, Asymmetry of the thorax, Aplasia/Hypoplasia of t... |
ORPHA:2911 |
Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs, Vertebral fusion, Abnormal cervical curvature, Cleft palate |
OMIM:312150 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis |
OMIM:614328 |
Cole-Carpenter Syndrome |
|
Abnormal rib morphology, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Scoliosis, Pyloric stenosis, Cleft palate, Failure to thrive, Rib fusion, Abnormal vertebral morp... |
ORPHA:261197 |
Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Meckel diverticulum, Morphological abnormality of the gastrointestinal tr... |
ORPHA:2847 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Villous atrophy, Protein-losing enteropathy |
OMIM:602579 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormal rib morphology, Abnormally ossified vertebrae, Anal atresia, Missing ribs |
ORPHA:3301 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Dysphagia, Beaking of vertebral bodies, Kyphoscoliosis, Ovoid thoracolumbar verte... |
OMIM:252930 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hepatic hemangioma, Gastroesophageal reflux, Thin ribs, Dysphagia, Narrow chest, Abnormal thorax ... |
ORPHA:73230 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Patent ductus arteriosus |
OMIM:608104 |
Alagille Syndrome |
|
Failure to thrive, Abnormal rib morphology, Spina bifida occulta, Butterfly vertebral arch, Verte... |
ORPHA:52 |
Phaver Syndrome |
|
Abnormal rib morphology, Butterfly vertebrae, Abnormal form of the vertebral bodies |
ORPHA:2876 |
Refractory Celiac Disease |
|
Malabsorption, Villous atrophy, Protein-losing enteropathy, Jejunitis |
ORPHA:398063 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Ileal ulcer |
OMIM:616744 |
Familial Pancreatic Carcinoma |
|
Melanoma, Neoplasm of the liver, Colon cancer, Breast carcinoma, Ovarian carcinoma, Pancreatic ad... |
ORPHA:1333 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy |
OMIM:618154 |
Aicardi Syndrome |
|
Hemangioma, Scoliosis, Carcinoma, Butterfly vertebrae, Metastatic angiosarcoma, Hiatus hernia, Mi... |
OMIM:304050 |
Multiple Pterygium Syndrome, Lethal Type |
|
Thin ribs, Vertebral fusion, Abnormal cervical curvature, Cleft palate |
OMIM:253290 |
Mucopolysaccharidosis, Type Iiia |
|
Scoliosis, Thickened ribs, Ovoid thoracolumbar vertebrae |
OMIM:252900 |
Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Butterfly vertebrae, Short neck, Failure to thrive in infancy, Cleft palate, Posteri... |
OMIM:611209 |
Cartilage-Hair Hypoplasia |
|
Scoliosis, Short neck, Malabsorption, Sacral dimple, Aganglionic megacolon, Abnormal rib morpholo... |
ORPHA:175 |
Cole-Carpenter Syndrome 2 |
|
High palate, Pectus excavatum, Thin ribs, Kyphosis, Platyspondyly |
OMIM:616294 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Fused cervical vertebrae, Failure to thrive in infancy, Broad ribs, Flaring of rib cage |
OMIM:612852 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Thoracic hypoplasia, Small for gestational age, Coat hanger sign of ribs, Large for gestational age |
ORPHA:254534 |
Pontine Tegmental Cap Dysplasia |
|
Hemivertebrae, Rib fusion, Scoliosis, Failure to thrive |
OMIM:614688 |
Visceral Myopathy 1 |
|
Megaduodenum, Aganglionic megacolon, Dysphagia, Intestinal pseudo-obstruction, Microcolon |
OMIM:155310 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Biconcave vertebral bodies, Scoliosis, Kyphosis |
OMIM:259420 |
Dextrocardia |
|
Abnormal rib morphology, Intestinal malrotation, Meckel diverticulum, Neuroblastoma |
ORPHA:1666 |
Aspergillosis |
|
Abnormality of the vertebral column, Abnormal esophagus morphology, Abnormal rib morphology, Hema... |
ORPHA:1163 |
Radiation Proctitis |
|
Rectal fistula, Hematochezia, Intestinal obstruction, Rectal abscess, Abnormal gastrointestinal v... |
ORPHA:70475 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Thin ribs, Decreased body weight, Cleft palate |
OMIM:618265 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Protein-losing enteropathy |
ORPHA:79319 |
Cat Eye Syndrome |
|
Rectal fistula, Anal atresia, Rectal atresia, Volvulus, Cleft palate, Patent ductus arteriosus, I... |
OMIM:115470 |
Mednik Syndrome |
|
Jejunal atresia, Volvulus, Microcolon |
OMIM:609313 |
Osteogenesis Imperfecta, Type Xviii |
|
Biconcave vertebral bodies, Thin ribs, Vertebral compression fracture |
OMIM:617952 |
Paragangliomas 4 |
|
Renal cell carcinoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemodectoma, Extraadrenal ... |
OMIM:115310 |
Cleidocranial Dysplasia |
|
Down-sloping shoulders, Abnormal sacrum morphology, Scoliosis, Hypoplastic scapulae, Short clavic... |
ORPHA:1452 |
Cerebrocostomandibular Syndrome |
|
Thoracic hypoplasia, High palate, Gastroesophageal reflux, Scoliosis, Anteriorly placed anus, Sho... |
OMIM:117650 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology |
ORPHA:2772 |
Congenital Alveolar Capillary Dysplasia |
|
Anal atresia, Intestinal malrotation, Volvulus, Aganglionic megacolon, Patent ductus arteriosus, ... |
ORPHA:210122 |
Gm1-Gangliosidosis, Type I |
|
Scoliosis, Short neck, Hypoplastic vertebral bodies, Kyphosis, Thickened ribs, Beaking of vertebr... |
OMIM:230500 |
Mucopolysaccharidosis, Type Ivb |
|
Scoliosis, Ovoid vertebral bodies, Cervical subluxation, Kyphosis, Platyspondyly, Prominent stern... |
OMIM:253010 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dysphagia, Meckel diverticulum |
ORPHA:163961 |
Scleroderma |
|
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Abnormal small intestine morp... |
ORPHA:801 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Scoliosis, Lumbar hyperlordosis, Irregular chondrocostal junctions, Short ribs, Cupped ribs, Flat... |
OMIM:250420 |
Cenani-Lenz Syndrome |
|
Abnormal rib morphology, Scoliosis, High, narrow palate, Abnormal form of the vertebral bodies |
ORPHA:3258 |
Mosaic Trisomy 8 |
|
High palate, Scoliosis, Short neck, Cleft palate, Abnormal rib morphology, Narrow chest, Vertebra... |
ORPHA:96061 |
Proprotein Convertase 1/3 Deficiency |
|
Malabsorption, Villous atrophy |
OMIM:600955 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Abnormal small intestine morp... |
ORPHA:90291 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Thoracic hypoplasia, Horizontal ribs, Lateral clavicle hook, Short ribs, Narrow chest |
OMIM:617895 |
Microphthalmia, Syndromic 3 |
|
Esophageal atresia, Butterfly vertebrae, Vertebral fusion, Missing ribs, Hemivertebrae, Hypothala... |
OMIM:206900 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal rib morphology, Vertebral segmentation defect |
ORPHA:1120 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae |
OMIM:252920 |
Greenberg Dysplasia |
|
Thoracic hypoplasia, Beaded ribs, Absent or minimally ossified vertebral bodies, Long clavicles, ... |
OMIM:215140 |
Autosomal Dominant Centronuclear Myopathy |
|
Thin ribs, Cavernous hemangioma, Pyloric stenosis |
ORPHA:169189 |
Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Microcolon |
OMIM:619362 |
Trisomy 1Q |
|
Abnormal rib morphology, Anal atresia, Short thorax, Cleft palate |
ORPHA:261344 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
High palate, Thin ribs |
ORPHA:456328 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad ribs, High palate, Vertebral arch anomaly |
ORPHA:85184 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Decreased body weight |
OMIM:614833 |
Radio-Renal Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal rib morphology, High, narrow palate, Short neck |
ORPHA:3015 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal rib morphology, Short ribs, Broad ribs, Abnormal sternum morphology |
ORPHA:2519 |
Cantú Syndrome |
|
Ovoid vertebral bodies, Short neck, Broad ribs, Platyspondyly, Narrow chest, Cuboid-shaped verteb... |
ORPHA:1517 |
Kagami-Ogata Syndrome |
|
Thoracic hypoplasia, Coat hanger sign of ribs, Short neck, Hepatoblastoma, Bell-shaped thorax, Ky... |
ORPHA:254519 |
Familial Osteodysplasia, Anderson Type |
|
Scoliosis, Missing ribs, Kyphosis, Abnormal rib morphology, Aplastic clavicle, Abnormal form of t... |
ORPHA:2769 |
Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
Occipital Horn Syndrome |
|
High palate, Pectus excavatum, Hiatus hernia, Exostoses, Pelvic bone exostoses, Bladder carcinoma... |
OMIM:304150 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Thin ribs |
ORPHA:163966 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Bell-shaped thorax, Horizontal ribs, Failure to thrive |
OMIM:614857 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Fat malabsorption, Acholic stools |
OMIM:607765 |
Beckwith-Wiedemann Syndrome |
|
Macroglossia, Neoplasm, Gonadoblastoma, Hepatoblastoma, Adrenocortical carcinoma, Cleft palate, L... |
ORPHA:116 |
Short-Rib Thoracic Dysplasia 12 |
|
Thoracic dysplasia, Horizontal ribs, Short neck, Median cleft lip and palate, Short ribs, Hypopla... |
OMIM:269860 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Anal atresia, Horizontal ribs, Lateral clavicle hook, Long thorax, Short neck, Short ribs, Cleft ... |
OMIM:617925 |
Fg Syndrome Type 1 |
|
Anal atresia, Malrotation of colon, High palate, Gastroesophageal reflux, Pyloric stenosis, Sacra... |
ORPHA:93932 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Pectus excavatum, Scoliosis, Capillary hemangioma, Kyphosis, Cleft palate, Abnormal rib morphology |
ORPHA:2215 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatocellular carcinoma, Fat malabsorption |
OMIM:601847 |
Schwartz-Jampel Syndrome |
|
High palate, Scoliosis, Pectus excavatum, Odontogenic neoplasm, Short neck, Kyphosis, Cachexia, S... |
ORPHA:800 |
Lethal Congenital Contracture Syndrome 10 |
|
Macroglossia, High palate, Short neck, Broad ribs, Narrow palate, Narrow chest, Thoracic scoliosis |
OMIM:617022 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
High palate, Scoliosis, Pectus excavatum, Cleft palate, Failure to thrive, Spina bifida occulta, ... |
ORPHA:2990 |
Hurler Syndrome |
|
Macroglossia, Scoliosis, Short neck, Abnormal rib morphology, Spinal canal stenosis, Abnormal cla... |
ORPHA:93473 |
Bent Bone Dysplasia Syndrome 2 |
|
Butterfly vertebrae, Short neck, Coronal cleft vertebrae, Short ribs, Thin ribs, Platyspondyly, S... |
OMIM:620076 |
Fibrous Dysplasia Of Bone |
|
Scoliosis, Cutaneous myxoma, Abnormal lumbar spine morphology, Thyroid carcinoma, Abnormal rib mo... |
ORPHA:249 |
Osteogenesis Imperfecta, Type Viii |
|
Scoliosis, Thin ribs, Kyphosis, Vertebral compression fracture, Platyspondyly, Barrel-shaped chest |
OMIM:610915 |
Meier-Gorlin Syndrome 1 |
|
High palate, Small for gestational age, Lateral clavicle hook, Short ribs, Thin ribs, Abnormal ri... |
OMIM:224690 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
High palate, Pectus excavatum, Eunuchoid habitus, Thin ribs, Lumbar hemivertebrae |
ORPHA:2463 |
Mucolipidosis Iii Alpha/Beta |
|
Short ribs, Broad ribs, Scoliosis |
OMIM:252600 |
Oculocerebrocutaneous Syndrome |
|
Abnormal rib morphology, Exostoses, Missing ribs |
ORPHA:1647 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
High palate, Scoliosis, Vertebral fusion, Pectus excavatum, Short neck, Sacral dimple, Cleft pala... |
OMIM:213980 |
Kyphomelic Dysplasia |
|
Thoracic hypoplasia, Lateral clavicle hook, Anterior rib cupping, Undulate ribs, Cleft palate, Pl... |
OMIM:211350 |
Cog1-Cdg |
|
Rib fusion, High palate, Butterfly vertebrae, Short neck, Failure to thrive, Posterior rib gap, I... |
ORPHA:263508 |
Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Thin ribs |
OMIM:615368 |
Acrorenal-Mandibular Syndrome |
|
High palate, Butterfly vertebrae, Missing ribs, Thin ribs, Hypoplastic scapulae, Hemivertebrae, A... |
OMIM:200980 |
Gracile Bone Dysplasia |
|
Ankyloglossia, Thin ribs, Failure to thrive |
OMIM:602361 |
Kagami-Ogata Syndrome |
|
Bell-shaped thorax, Thin ribs, Kyphoscoliosis, Long clavicles |
OMIM:608149 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Ileal atresia, Microcolon, Patent ductus arteriosus |
OMIM:619351 |
Antley-Bixler Syndrome |
|
Abnormal rib morphology, Narrow chest, Cleft palate |
ORPHA:83 |
Otopalatodigital Syndrome Type 2 |
|
Scoliosis, Cleft palate, Abnormal rib morphology, Failure to thrive, Narrow chest, Glossoptosis, ... |
ORPHA:90652 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Abnormal rib morphology, Scoliosis, Cleft palate |
ORPHA:1300 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Anal atresia, Horizontal ribs, Short ribs, Cleft palate, Hamartoma of tongue, Bell-shaped thorax,... |
OMIM:616300 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Thoracic hypoplasia, Horizontal ribs, Ovoid vertebral bodies, Thoracolumbar scoliosis, Kyphosis, ... |
OMIM:618019 |
Congenital Tracheal Stenosis |
|
Anal atresia, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, Abnormal... |
ORPHA:141127 |
Serkal Syndrome |
|
Malrotation of small bowel |
ORPHA:139466 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Narrow chest, Abnormal rib morphology, Abnormal scapula morphology |
ORPHA:93317 |
Kindler Epidermolysis Bullosa |
|
Inflammation of the large intestine, Neoplasm of the urethra, Abnormality of the anus, Colitis, E... |
ORPHA:2908 |
Frontometaphyseal Dysplasia 1 |
|
High palate, Scoliosis, Coat hanger sign of ribs, Fused cervical vertebrae, Cleft palate, Scapula... |
OMIM:305620 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
High palate, Scoliosis, Gastroesophageal reflux, Lateral clavicle hook, Pectus excavatum, Thin ri... |
OMIM:182212 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Fat malabsorption |
OMIM:211600 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Down-sloping shoulders, High palate, Scoliosis, Short neck, Thoracolumbar scoliosis, Long clavicl... |
OMIM:265000 |
Osteopathia Striata With Cranial Sclerosis |
|
Anal atresia, High palate, Gastroesophageal reflux, Scoliosis, Bifid uvula, Straight clavicles, P... |
OMIM:300373 |
Mucopolysaccharidosis, Type Vi |
|
Macroglossia, Lumbar hyperlordosis, Ovoid vertebral bodies, Anterior wedging of L2, Anterior wedg... |
OMIM:253200 |
Craniometadiaphyseal Dysplasia |
|
Broad ribs, High palate, Scoliosis |
OMIM:269300 |
Short Rib-Polydactyly Syndrome |
|
Thoracic hypoplasia, Horizontal ribs, Absent or minimally ossified vertebral bodies, Short ribs, ... |
ORPHA:1505 |
Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
Severe Congenital Nemaline Myopathy |
|
Dysphagia, Abnormal thorax morphology, Thin ribs |
ORPHA:171430 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption |
OMIM:214950 |
Pyknoachondrogenesis |
|
Horizontal ribs, Enlarged thorax, Short ribs, Poorly ossified vertebrae, Unossified sacrum, Short... |
ORPHA:3003 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
High palate, Decreased body weight, Ovoid vertebral bodies, Irregular vertebral endplates, Short ... |
OMIM:271640 |
Xylt1-Cdg |
|
Broad ribs, Truncal obesity, Short clavicles, Cleft palate |
ORPHA:370930 |
Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Pyloric stenosis |
OMIM:616395 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption |
ORPHA:79302 |
Mucopolysaccharidosis, Type Iiid |
|
Macroglossia, Short neck, Hypoplastic vertebral bodies, Thickened ribs, Dysphagia, Thoracic scoli... |
OMIM:252940 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin clavicles, Thin ribs, Long clavicles |
OMIM:244460 |
Myotubular Myopathy With Abnormal Genital Development |
|
High palate, Thin ribs |
OMIM:300219 |
Chylomicron Retention Disease |
|
Steatorrhea, Fat malabsorption |
ORPHA:71 |
Hallermann-Streiff Syndrome |
|
High palate, Scoliosis, Small for gestational age, Pectus excavatum, Thin ribs, Decreased number ... |
OMIM:234100 |
Sclerosteosis 1 |
|
Sclerotic vertebral endplates, Broad ribs, Sclerotic scapulae, Broad clavicles |
OMIM:269500 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Ileus, Microcolon, Aganglionic megacolon |
ORPHA:163746 |
Acrocapitofemoral Dysplasia |
|
Pectus excavatum, Scoliosis, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ribs, Pectus car... |
OMIM:607778 |
Carney Triad |
|
Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Gastrointestinal hemorrh... |
ORPHA:139411 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin clavicles, Thin ribs |
ORPHA:93324 |
Osteogenesis Imperfecta |
|
Thoracic hypoplasia, Small for gestational age, Scoliosis, Pectus excavatum, Intestinal obstructi... |
ORPHA:666 |
Hyperparathyroidism, Transient Neonatal |
|
Gastroesophageal reflux, Short ribs, Thin ribs, Undulate ribs, Narrow chest, Fractured rib |
OMIM:618188 |
Bare Lymphocyte Syndrome, Type Ii |
|
Malabsorption, Villous atrophy, Colitis |
OMIM:209920 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Steatorrhea, Fat malabsorption |
ORPHA:79303 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Rectal prolapse, Narrow palate, Intestinal lymphangiectasia, Protein-losing enteropathy |
OMIM:235510 |
Wolf-Hirschhorn Syndrome |
|
Hemangioma, Scoliosis, Abnormal thorax morphology, Abnormality of the vertebral column, Sacral di... |
ORPHA:280 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Protein-losing enteropathy, Cleft palate |
OMIM:235255 |
Oculoskeletodental Syndrome |
|
Macroglossia, Protein-losing enteropathy |
OMIM:618440 |
Van Den Ende-Gupta Syndrome |
|
High palate, Pectus excavatum, Lateral clavicle hook, Short ribs, Thin ribs, Sacral dimple, Hypop... |
OMIM:600920 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Functional abnorma... |
ORPHA:90362 |
Weill-Marchesani Syndrome 1 |
|
Scoliosis, Lumbar hyperlordosis, Broad ribs, Spinal canal stenosis, Narrow palate |
OMIM:277600 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Macroglossia, Sacrococcygeal teratoma, Short neck, Hypoplasia of first ribs, Long clavicles, Broa... |
OMIM:269150 |
Campomelic Dysplasia |
|
Absent sternal ossification, High palate, Scoliosis, Thoracic hypoplasia, Cervical spine instabil... |
OMIM:114290 |
Fryns Syndrome |
|
Thoracic hypoplasia, Esophageal atresia, Anal atresia, Duodenal atresia, Short neck, Broad ribs, ... |
OMIM:229850 |
Simpson-Golabi-Behmel Syndrome |
|
Macroglossia, Pectus excavatum, Scoliosis, Vertebral fusion, Neoplasm, Short neck, Hepatoblastoma... |
ORPHA:373 |
Fanconi Anemia, Complementation Group D2 |
|
Tracheoesophageal fistula, Esophageal atresia, Prolonged G2 phase of cell cycle, Patent ductus ar... |
OMIM:227646 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Platyspondyly, Cupped ribs, Scoliosis, Ovoid vertebral bodies |
ORPHA:85167 |
Immunodeficiency 31C |
|
Gastrointestinal eosinophilia, Intussusception, Protein-losing enteropathy, Villous atrophy |
OMIM:614162 |
Kbg Syndrome |
|
Vertebral fusion, Thoracic kyphosis, Short neck, Vertebral arch anomaly, Rib fusion, Cervical ribs |
OMIM:148050 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Celiac disease, Rib fusion, Sacral dimple, Large for gestational age |
ORPHA:544488 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Macroglossia, Rib fusion, Pectus excavatum, Scoliosis, Vertebral fusion, Thoracic hemivertebrae, ... |
OMIM:268310 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Macroglossia, Thoracic hypoplasia, Pectus excavatum, Coat hanger sign of ribs, Prominent sternum |
ORPHA:254528 |
Hereditary Acrokeratotic Poikiloderma |
|
Oral leukoplakia, Abnormality of the gastrointestinal tract, Ankyloglossia, Xerostomia, Abnormal ... |
ORPHA:2907 |
Mucopolysaccharidosis Type 3 |
|
Macroglossia, Scoliosis, Malabsorption, Dysphagia, Abnormal rib morphology, Abnormal clavicle mor... |
ORPHA:581 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Anteriorly placed anus, Broad ribs, Cleft palate, Hemivertebrae, Failure to thrive, Broad clavicl... |
OMIM:151050 |
Nestor-Guillermo Progeria Syndrome |
|
Scoliosis, Progressive clavicular acroosteolysis, Rib osteolysis, Thin ribs, Failure to thrive |
OMIM:614008 |
Restrictive Dermopathy |
|
Thin ribs, Submucous cleft hard palate, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavic... |
ORPHA:1662 |
Schinzel-Giedion Syndrome |
|
Macroglossia, Sacrococcygeal teratoma, High palate, Myeloid leukemia, Anteriorly placed anus, Sco... |
ORPHA:798 |
Vater/Vacterl Association |
|
Esophageal atresia, Scoliosis, Anal atresia, Failure to thrive, Abnormal rib morphology, Tracheoe... |
OMIM:192350 |
Autosomal Recessive Robinow Syndrome |
|
Pectus excavatum, Scoliosis, Short neck, Ankyloglossia, Sacral dimple, Kyphosis, Pectus carinatum... |
ORPHA:1507 |
Metachromatic Leukodystrophy |
|
Neoplasm of the gallbladder, Intussusception, Abnormal stomach morphology, Abnormal duodenum morp... |
ORPHA:512 |
Myhre Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Cleft palate, Platyspondyly, Abnormal rib morphology |
ORPHA:2588 |
Tarp Syndrome |
|
High palate, Cleft palate, Glossoptosis, Tongue nodules, Meckel diverticulum |
OMIM:311900 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Esophageal atresia, Anal atresia, Duodenal atresia, Cleft p... |
OMIM:265380 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Macroglossia, Thoracic hypoplasia, Pectus excavatum, Scoliosis, Coat hanger sign of ribs, Short n... |
ORPHA:96334 |
Smith-Lemli-Opitz Syndrome |
|
Gastroesophageal reflux, Scoliosis, Pyloric stenosis, Short neck, Kyphosis, Aganglionic megacolon... |
ORPHA:818 |
Trisomy 18 |
|
Esophageal atresia, Anal atresia, Cleft palate, Abnormal rib morphology, Narrow palate |
ORPHA:3380 |
Bloom Syndrome |
|
Neoplasm, Gastroesophageal reflux, Malignant genitourinary tract tumor, Acute lymphoblastic leuke... |
ORPHA:125 |
Pallister-Hall Syndrome |
|
Anal atresia, Anteriorly placed anus, Cleft palate, Hemivertebrae, Hypothalamic hamartoma, Microg... |
OMIM:146510 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Protein-losing enteropathy |
ORPHA:1655 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Intestinal malrotation, Cervical ribs, Colon perforation, Microcolon |
OMIM:600001 |
Premature Aging Syndrome, Penttinen Type |
|
Thin ribs, Scoliosis, Cervical ribs, Failure to thrive |
OMIM:601812 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Horizontal inferior border of scapula, Short neck, Short ribs, Platyspondyly, Narrow chest, 11 pa... |
OMIM:250220 |
17Q11 Microdeletion Syndrome |
|
Scoliosis, Glomus jugular tumor, Gastrointestinal stroma tumor, Beaking of vertebral bodies T12-L... |
ORPHA:97685 |
Alagille Syndrome 1 |
|
Hepatocellular carcinoma, Papillary thyroid carcinoma, Hemivertebrae, Abnormal rib morphology, Fa... |
OMIM:118450 |
Ellis-Van Creveld Syndrome |
|
Short ribs, Horizontal ribs, Narrow chest, Pectus carinatum |
OMIM:225500 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Scoliosis, Gastroesophageal reflux, Anteriorly placed anus, Hypoplastic scapulae, High, narrow pa... |
ORPHA:95699 |
X-Linked Hypophosphatemia |
|
Rachitic rosary, Enlargement of the costochondral junction, Beaded ribs, Vertebral hyperostosis, ... |
ORPHA:89936 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Scoliosis, Small for gestational age, Ankyloglossia, Missing ribs, Hemi... |
ORPHA:97360 |
Femoral-Facial Syndrome |
|
Scoliosis, Gastroesophageal reflux, Absent vertebra, Missing ribs, Cleft palate, Hemivertebrae, S... |
OMIM:134780 |
Monosomy 9P |
|
High palate, Scoliosis, Short neck, Abnormality of the vertebral column, Cleft palate, Abnormal r... |
ORPHA:261112 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Meckel diverticulum, Anteriorly placed anus, Patent du... |
ORPHA:1708 |
Carney Complex |
|
Neoplasm of the pharynx, Cutaneous myxoma, Leydig cell neoplasia, Neoplasm of the stomach, Papill... |
ORPHA:1359 |
Zttk Syndrome |
|
High palate, Scoliosis, Bifid uvula, Submucous cleft hard palate, Kyphosis, Failure to thrive, He... |
OMIM:617140 |
Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
Stuve-Wiedemann Syndrome 1 |
|
Scoliosis, Ovoid vertebral bodies, Short neck, Thin ribs, Smooth tongue |
OMIM:601559 |
Ear-Patella-Short Stature Syndrome |
|
Bifid uvula, Submucous cleft hard palate, High, narrow palate, Abnormal rib morphology, Cleft pal... |
ORPHA:2554 |
Myhre Syndrome |
|
Small for gestational age, Vertebral fusion, Short neck, Broad ribs, Cleft palate, Platyspondyly,... |
OMIM:139210 |
Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Anal atresia, Lymphoma |
ORPHA:1572 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine |
OMIM:200995 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Abnormal rib morphology, Spina bifida occulta, Short neck |
ORPHA:488434 |
Pseudo-Torch Syndrome 2 |
|
Thin ribs |
OMIM:617397 |
Tarp Syndrome |
|
Tongue nodules, Glossoptosis, Abnormal duodenum morphology, Cleft palate |
ORPHA:2886 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Protein-losing enteropathy |
OMIM:618183 |
Wolf-Hirschhorn Syndrome |
|
Hemangioma, Small for gestational age, Scoliosis, Vertebral fusion, Sacral dimple, Kyphosis, Clef... |
OMIM:194190 |
Eiken Syndrome |
|
Broad ribs, Decreased body weight |
OMIM:600002 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pyloric stenosis, Long clavicles, Thin ribs, Cleft palate, Failure to thrive, Cleft vertebral arc... |
ORPHA:83617 |
1P36 Deletion Syndrome |
|
Gastroesophageal reflux, Abnormal intestine morphology, Scoliosis, Pyloric stenosis, Abnormality ... |
ORPHA:1606 |
Musculocontractural Ehlers-Danlos Syndrome |
|
High palate, Malrotation of small bowel, Cleft palate |
ORPHA:2953 |
Weill-Marchesani Syndrome 2 |
|
High palate, Scoliosis, Lumbar hyperlordosis, Broad ribs, Spinal canal stenosis, Narrow palate |
OMIM:608328 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Obesity, Broad ribs, Hyperlordosis, Cleft palate |
OMIM:301066 |
Alpha-Mannosidosis, Infantile Form |
|
Macroglossia, Pectus excavatum, Short neck, Thickened ribs, Platyspondyly, Pectus carinatum |
ORPHA:309282 |
Oculocerebrorenal Syndrome Of Lowe |
|
Gastroesophageal reflux, Scoliosis, Odontogenic neoplasm, Malabsorption, Kyphosis, Benign neoplas... |
ORPHA:534 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Thoracic dysplasia, Horizontal ribs, Lateral clavicle hook, Short ribs, Narrow chest |
OMIM:208500 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Horizontal ribs, Short ribs, Short clavicles, Hamartoma, Narrow chest, Aplasia of the epiglottis |
OMIM:617088 |
Ulbright-Hodes Syndrome |
|
High palate, Short neck, Short ribs, Thin ribs, Abnormal rib morphology, Short sternum, Ovoid tho... |
ORPHA:3404 |
Osteogenesis Imperfecta, Type Vii |
|
Pectus excavatum, Scoliosis, Vertebral compression fracture, Narrow chest, Multiple rib fractures |
OMIM:610682 |
Zygomycosis |
|
Hematochezia, Colitis, Gastritis, Gastrointestinal hemorrhage, Melena, Hematemesis, Enterocolitis... |
ORPHA:73263 |
Fanconi Anemia |
|
Anal atresia, Aplasia/Hypoplasia of the uvula, High palate, Aganglionic megacolon, Cleft palate, ... |
ORPHA:84 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Progressive congenital scoliosis, Thin ribs, Platyspondyly, Gastrointestinal hemorrhage, Kyphosco... |
OMIM:225400 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Fat malabsorption |
ORPHA:96180 |
Fetal Akinesia Deformation Sequence 1 |
|
Thoracic hypoplasia, High palate, Small for gestational age, Short neck, Thin ribs, Cleft palate,... |
OMIM:208150 |
Fanconi Anemia, Complementation Group E |
|
Prolonged G2 phase of cell cycle |
OMIM:600901 |
Autosomal Recessive Polycystic Kidney Disease |
|
Protein-losing enteropathy, Esophageal varix, Hepatoblastoma, Cholangiocarcinoma, Gastrointestina... |
ORPHA:731 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Congenital pseudoarthrosis of the clavicle, High palate, Short neck, Broad ribs, Broad clavicles,... |
OMIM:276820 |
Fanconi Anemia, Complementation Group A |
|
Prolonged G2 phase of cell cycle |
OMIM:227650 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
High palate, Hiatus hernia, Cleft palate, Intestinal malrotation, Abnormal duodenum morphology |
OMIM:601776 |
Fraser Syndrome 1 |
|
Abnormality of the anus, Abnormal small intestine morphology, Cleft palate |
OMIM:219000 |
Isolated Biliary Atresia |
|
Fat malabsorption, Acholic stools |
ORPHA:30391 |
Baller-Gerold Syndrome |
|
Anal atresia, High palate, Scoliosis, Anteriorly placed anus, Bifid uvula, Cleft palate, Midface ... |
OMIM:218600 |
Fanconi Anemia, Complementation Group C |
|
Prolonged G2 phase of cell cycle |
OMIM:227645 |
Charge Syndrome |
|
Abnormal soft palate morphology, Gastroesophageal reflux, Scoliosis, Cleft palate, Hemivertebrae,... |
ORPHA:138 |
Cranioectodermal Dysplasia 2 |
|
High palate, Horizontal ribs, Pectus excavatum, Short neck, Short ribs, Cleft palate, Narrow chest |
OMIM:613610 |
Craniotubular Dysplasia, Ikegawa Type |
|
Platyspondyly, Broad ribs, Increased intervertebral space |
OMIM:619727 |
Cardiospondylocarpofacial Syndrome |
|
Herniation of intervertebral nuclei, Scoliosis, Failure to thrive, Fused cervical vertebrae, Rib ... |
OMIM:157800 |
Charge Syndrome |
|
Down-sloping shoulders, Anal atresia, Esophageal atresia, Scoliosis, Duodenal atresia, Cleft pala... |
OMIM:214800 |
Abetalipoproteinemia |
|
Steatorrhea, Fat malabsorption |
ORPHA:14 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
High palate, Pectus excavatum, Short neck, Short clavicles, Undulate ribs |
OMIM:609945 |
Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Patent ductus arteriosus, Cleft palate |
OMIM:274000 |
Townes-Brocks Syndrome |
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Rectoperineal fistula, Anal atresia, Anteriorly placed anus, Abnormal rib morphology, Rectovagina... |
ORPHA:857 |
Shwachman-Diamond Syndrome |
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Steatorrhea, Abnormality of the gastrointestinal tract, Fat malabsorption |
ORPHA:811 |
Mucopolysaccharidosis Type 2, Severe Form |
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Macroglossia, Spinal canal stenosis, Abnormal vertebral morphology, Thickened ribs |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Macroglossia, Spinal canal stenosis, Abnormal vertebral morphology, Thickened ribs |
ORPHA:217093 |
Osteopetrosis With Renal Tubular Acidosis |
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High palate, Prominent floating ribs, Pectus excavatum, Failure to thrive |
ORPHA:2785 |
Trisomy 8P |
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Malrotation of small bowel, Bifid uvula, Cleft palate |
ORPHA:264450 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Lumbar hyperlordosis, Bifid uvula, Failure to thrive in infancy, Cleft palate, Hemivertebrae, Sub... |
ORPHA:500150 |
Chromosome 1P36 Deletion Syndrome, Distal |
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High palate, Gastroesophageal reflux, Scoliosis, Bifid uvula, Abnormality of the anus, Submucous ... |
OMIM:607872 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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High palate, Thin ribs, Supernumerary ribs, Pectus excavatum |
OMIM:619127 |
Pagod Syndrome |
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Abnormal rib morphology, Abnormal clavicle morphology |
ORPHA:991 |
Autosomal Recessive Cutis Laxa Type 1 |
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Small bowel diverticula, Pyloric stenosis |
ORPHA:90349 |
Coccidioidomycosis |
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Abnormality of the vertebral column, Broad ribs |
ORPHA:228123 |
Viss Syndrome |
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Macroglossia, High palate, Gastroesophageal reflux, Broad uvula, Bifid uvula, Duodenitis, High, n... |
OMIM:619472 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Protein-losing enteropathy, Patent ductus arteriosus |
OMIM:619991 |
Autosomal Recessive Malignant Osteopetrosis |
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Abnormal rib morphology, Narrow chest |
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