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 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... |
OMIM:610069 |
Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
Desmoid Disease, Hereditary |
|
Colorectal polyposis, Colon cancer, Desmoid tumors |
OMIM:135290 |
Polyposis, Intestinal, With Multiple Exostoses |
|
Intestinal polyposis |
OMIM:175450 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Anal Canal Carcinoma |
|
Anal canal squamous carcinoma |
OMIM:105580 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... |
ORPHA:247798 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis |
OMIM:615083 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Lynch Syndrome 8 |
|
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer |
OMIM:613244 |
Mismatch Repair Cancer Syndrome 4 |
|
Glioblastoma multiforme, Astrocytoma, Adenomatous colonic polyposis, Colon cancer, Non-Hodgkin ly... |
OMIM:619101 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... |
ORPHA:157798 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Colorectal Cancer, Susceptibility To, 10 |
|
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis |
OMIM:612591 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema... |
ORPHA:157794 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma |
OMIM:619182 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... |
ORPHA:480536 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Multiple lipomas, Rena... |
OMIM:135150 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormal rib morphology, Scoliosis, Pectus carinatum |
ORPHA:3268 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... |
ORPHA:251992 |
Hirschsprung Disease |
|
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th... |
ORPHA:388 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Desmoid... |
ORPHA:873 |
Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer |
OMIM:619096 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Malabsorption, Furrowed tongue, Hamartomatous polyposis, Colon cancer, Gast... |
ORPHA:2930 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abnormal shoulder ... |
ORPHA:2345 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi... |
OMIM:609813 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal rib morphology, Narrow chest, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the ver... |
ORPHA:2790 |
Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... |
OMIM:187760 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Lymphoid... |
ORPHA:210548 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Abnormal ... |
ORPHA:1801 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... |
ORPHA:2198 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma |
OMIM:617100 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... |
OMIM:619975 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the ... |
ORPHA:2635 |
Gardner Syndrome |
|
Duodenal polyposis, Astrocytoma, Brain neoplasm, Multiple gastric polyps, Papillary thyroid carci... |
ORPHA:79665 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Tracheoesophageal fistula, Abnormal form of the vertebral bodies, Intest... |
ORPHA:93941 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroma, Adenomatous colonic polyposis... |
OMIM:175100 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verte... |
ORPHA:2234 |
Mosaic Trisomy 14 |
|
Short neck, Abnormal rib morphology, Cleft palate, Ectopic anus, High palate, Narrow chest, Failu... |
ORPHA:1703 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Muir-Torre Syndrome |
|
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... |
ORPHA:587 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Short thorax, Cleft palate, Enlarged thorax, Absent or minimally ossifi... |
ORPHA:66637 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Glioblastoma multif... |
ORPHA:144 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Prominent floating ribs, Malabsorption |
OMIM:152800 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Anal stenosis, Abnormal odontoid process morphology, Block vertebrae, Missing r... |
OMIM:613686 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Neoplasm of the skeletal system, Rectal prolapse, Neoplasm of the rectum, Neoplasm... |
ORPHA:424019 |
Juvenile Nasopharyngeal Angiofibroma |
|
Juvenile colonic polyposis |
ORPHA:289596 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Protein-losing enteropathy |
OMIM:619063 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
Mismatch Repair Cancer Syndrome 3 |
|
Glioblastoma multiforme, Astrocytoma, Lymphoma, T-cell lymphoma, Neoplasm of the rectum, Colon ca... |
OMIM:619097 |
Becker Nevus Syndrome |
|
Hamartoma, Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosi... |
ORPHA:64755 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis |
OMIM:259440 |
Cowden Syndrome 7 |
|
Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He... |
OMIM:616858 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... |
ORPHA:2929 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Obesity, High pala... |
ORPHA:2180 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Obesity, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ... |
OMIM:615633 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Abnormal rib morphology, Abnormal vertebral morphology, Dysphagia |
ORPHA:280195 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
Turcot Syndrome With Polyposis |
|
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... |
ORPHA:99818 |
Hirschsprung Disease, Susceptibility To, 3 |
|
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon |
OMIM:613711 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Intestinal polyp |
ORPHA:457485 |
Cowden Syndrome 6 |
|
Colonic diverticula, Subcutaneous lipoma, Pectus excavatum, Kyphosis, Fibroadenoma of the breast,... |
OMIM:615109 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Cleft palate |
OMIM:602196 |
Cowden Syndrome 5 |
|
Colonic diverticula, Subcutaneous lipoma, Pectus excavatum, Kyphosis, Breast carcinoma, Furrowed ... |
OMIM:615108 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Aicardi Syndrome |
|
Intestinal polyposis, Block vertebrae, Hiatus hernia, Malabsorption, Missing ribs, Rib fusion, Cl... |
ORPHA:50 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib... |
ORPHA:2522 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Neoplasm of the adrenal cortex, Abnormal large intestine morphology, Pectus... |
ORPHA:109 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus... |
OMIM:300048 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Axial Mesodermal Dysplasia Spectrum |
|
Missing ribs, Short neck, Anorectal anomaly, Abnormal rib morphology, Tracheoesophageal fistula, ... |
ORPHA:1834 |
Oligodontia-Colorectal Cancer Syndrome |
|
Fundic gland polyposis, Adenomatous colonic polyposis, Colon cancer |
OMIM:608615 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Clavicular pseudarthrosis, Cupped ribs, Hypoplasia of the... |
OMIM:156530 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Sp... |
OMIM:118100 |
Cap Polyposis |
|
Hematochezia, Atrophic gastritis, Colorectal polyposis |
ORPHA:160148 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Short neck, Kyphosis, Sh... |
ORPHA:2311 |
Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae |
OMIM:173800 |
Prune Belly Syndrome |
|
Intestinal malrotation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation defect,... |
ORPHA:2970 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs |
OMIM:617405 |
Cowden Syndrome 1 |
|
Colonic diverticula, Subcutaneous lipoma, Pectus excavatum, Kyphosis, Fibroadenoma of the breast,... |
OMIM:158350 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... |
OMIM:175500 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... |
ORPHA:276399 |
Cat-Eye Syndrome |
|
Abnormal rib morphology, Anal atresia |
ORPHA:195 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest |
ORPHA:93267 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebrae, Flaring ... |
ORPHA:168549 |
Vascular Hyalinosis |
|
Hematochezia, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology |
ORPHA:1513 |
Basal Cell Nevus Syndrome 1 |
|
Rhabdomyoma, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Vertebral fusion, Odont... |
OMIM:109400 |
Fibrochondrogenesis 2 |
|
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia |
OMIM:614524 |
Mccune-Albright Syndrome |
|
Intestinal polyposis |
OMIM:174800 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Aplasia/Hypoplasia of the tongue, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal ... |
ORPHA:2759 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Intestinal malrotation |
ORPHA:3035 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endomet... |
OMIM:614350 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Rectal prolapse, Multiple gastric polyps, Breast carcinoma, Hamartomato... |
OMIM:175200 |
Femoral-Facial Syndrome |
|
Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Cleft palate, Vertebral segmenta... |
ORPHA:1988 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Kyphosis, Visceral angiomatosis, Abnormal rib morphology, Abnormal ... |
ORPHA:628 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Short neck, Obesity, Thin ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Narrow v... |
OMIM:618395 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Cleft palate |
OMIM:601076 |
Lynch Syndrome 4 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Cleft palate, Pectus car... |
OMIM:184250 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies,... |
ORPHA:2021 |
Juberg-Hayward Syndrome |
|
Anteriorly placed anus, Abnormal rib morphology, Abnormal vertebral morphology, Scoliosis |
ORPHA:2319 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaki... |
OMIM:609616 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... |
ORPHA:474 |
Osteogenesis Imperfecta, Type Ii |
|
Small for gestational age, Beaded ribs, Thin ribs, Bell-shaped thorax, Platyspondyly, Thoracic hy... |
OMIM:166210 |
Achondrogenesis Type 1B |
|
Short thorax, Abnormal rib morphology, Narrow chest, Short neck |
ORPHA:93298 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Myelodysplasia, Abnormal thorax morphology, Abnormal rib morpholog... |
ORPHA:1318 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Short neck, Hyperlordosis, Sho... |
OMIM:612921 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... |
OMIM:269250 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Cooper-Jabs Syndrome |
|
Anteriorly placed anus, Abnormal rib morphology, Scoliosis, Missing ribs |
ORPHA:1488 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck |
ORPHA:1486 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia |
OMIM:606764 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:1836 |
Meconium Ileus |
|
Microcolon, Meconium ileus |
OMIM:614665 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... |
ORPHA:201 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
Renpenning Syndrome |
|
Cachexia, Pectus excavatum, High, narrow palate, Abnormal rib morphology, Cleft palate, Sprengel ... |
ORPHA:3242 |
Benign Schwannoma |
|
Intestinal polyposis, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannom... |
ORPHA:252164 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue, Short neck,... |
ORPHA:958 |
White Forelock With Malformations |
|
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology |
ORPHA:2475 |
Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Hyperlordosis, Broad clavicles, Platyspondyly, Posterior scalloping of vertebral ... |
OMIM:619698 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... |
ORPHA:2070 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Cartilage-Hair Hypoplasia |
|
Anal stenosis, Lumbar hyperlordosis, Aganglionic megacolon, Flaring of lower rib cage, Malabsorpt... |
OMIM:250250 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Renal neoplasm, Pancreatic adenocarcinoma, Glioblastoma multiforme, ... |
ORPHA:440437 |
Mucopolysaccharidosis, Type Iva |
|
Ovoid vertebral bodies, Short neck, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, ... |
OMIM:253000 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Kyphosis, Abnormal rib mo... |
ORPHA:392 |
Osteogenesis Imperfecta, Type Xvi |
|
Multiple rib fractures, Small for gestational age, Beaded ribs, Platyspondyly, Narrow chest, Vert... |
OMIM:616229 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Macroglossia, Broad ribs, Failure to thrive |
ORPHA:583 |
Grant Syndrome |
|
Sprengel anomaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest |
ORPHA:2097 |
Achondrogenesis, Type Ia |
|
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Protrudin... |
OMIM:200600 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... |
ORPHA:97286 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Short thorax, Abnormal rib morphology, Spinal canal stenosis... |
ORPHA:582 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Ovoid vertebral bodies, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly |
OMIM:608940 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Abnormal rib morphology, Pectus carinatum |
ORPHA:93351 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Platyspondyly, Posterior rib cupp... |
OMIM:608728 |
Pancreatic Colipase Deficiency |
|
Fat malabsorption, Steatorrhea |
ORPHA:309108 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Abnormal rib morphology, Tracheoesophageal fistula, Pectus carinatum |
ORPHA:3068 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Horizontal inferior border of scapula, Hypoplasia of the od... |
ORPHA:239 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Thin ribs, Wafer-thin platyspondy... |
OMIM:151210 |
Hypophosphatasia |
|
Abnormal rib morphology, Narrow chest, Failure to thrive in infancy |
ORPHA:436 |
Medulloblastoma |
|
Back pain, Adenomatous colonic polyposis, Medulloblastoma, Spinal cord tumor, Neoplasm of the lun... |
ORPHA:616 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Short neck, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleedin... |
ORPHA:261584 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl... |
ORPHA:424016 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Short thorax, Narrow chest, Short neck |
ORPHA:93299 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Patent ductus arteriosus, Duodenal stenosis |
ORPHA:2547 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Small for gestational age, Anterior rib cupping, Ovoid vertebral bodies, ... |
OMIM:260400 |
Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Cleft palate, Vertebral segmentation defect, Narrow chest,... |
ORPHA:1394 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Cleft palate, Colon cancer, Stomach cancer, Duodenal atresia |
ORPHA:1052 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Small for gestational age, Short neck, Beaded ribs, Cleft palate, Platysp... |
OMIM:616897 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... |
OMIM:615710 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Pyloric stenosis, Thin ribs, Platyspondyly, Narrow ch... |
OMIM:613848 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
3M Syndrome |
|
Scapular winging, Short neck, Hyperlordosis, Increased vertebral height, Kyphosis, Short thorax, ... |
ORPHA:2616 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Abnormality of the costochondral junction, Atlantoaxial instability, Punctate ... |
ORPHA:79345 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Abnormal rib morphology, Short neck, Pectus carinatum |
ORPHA:3082 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Thoracic hypoplasia, Lateral clavicle hook, Horizont... |
OMIM:613091 |
Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Short neck, Cleft palate, Hypoplastic vertebral bodies, Coronal cleft verte... |
ORPHA:2347 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Microcolon, Intestinal malrotation |
OMIM:619431 |
Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Short neck, Pectus excavat... |
ORPHA:77301 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Protein-losing enteropathy |
ORPHA:79327 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Cupped ribs, High palate, Short ribs, Kyphoscoliosis |
ORPHA:1145 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy |
OMIM:618154 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal rib morphology, Cleft p... |
ORPHA:2167 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Thin clavicles, Cleft pal... |
OMIM:228520 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Esophageal varix, Gastrointestinal hemorrhage |
ORPHA:774 |
Chylomicron Retention Disease |
|
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Alg6-Cdg |
|
Macroglossia, Protein-losing enteropathy |
ORPHA:79320 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Platyspondyly, Thin ribs |
OMIM:300863 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Thin ribs, ... |
OMIM:300232 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology, Anal atresia, Persisten... |
OMIM:615709 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Cleft palate, Short ribs, Horizontal ribs |
OMIM:200610 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum |
OMIM:190440 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs |
OMIM:122860 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Patent ductus arteriosus, Protein-losing enteropathy |
OMIM:608104 |
Dysosteosclerosis |
|
Sclerotic scapulae, Increased intervertebral space, Hypoplastic vertebral bodies, Irregular verte... |
OMIM:224300 |
Melnick-Needles Syndrome |
|
Short thorax, Abnormal rib morphology, Narrow chest, Short clavicles, Scoliosis, Anisospondyly |
ORPHA:2484 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Neoplasm of t... |
ORPHA:2241 |
Vacterl/Vater Association |
|
Abnormal intervertebral disk morphology, Abnormal sacrum morphology, Anorectal anomaly, Abnormal ... |
ORPHA:887 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Pectus excavatum, Submucous cleft hard palate, Supernumerary ribs, Six lumbar v... |
OMIM:619122 |
Dyggve-Melchior-Clausen Disease |
|
Barrel-shaped chest, Hypoplastic scapulae, Lumbar hyperlordosis, Flaring of lower rib cage, Short... |
OMIM:223800 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Dysphagia, Beaking of vertebral bo... |
OMIM:252930 |
Trisomy 13 |
|
Kyphosis, High, narrow palate, Abnormal rib morphology, Cleft palate, Narrow chest, Scoliosis, Ca... |
ORPHA:3378 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis |
OMIM:611376 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden... |
OMIM:601346 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Cleft palate, Pectus carinatu... |
OMIM:263520 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Intestinal polyposis |
ORPHA:276413 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology |
ORPHA:2643 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the sternum, Missing ribs, Short neck, Kyphosis, Retinal hamartoma, Abnorma... |
ORPHA:2911 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal rib morphology, Cleft palate |
ORPHA:2145 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Cleft palate, Thin ribs |
OMIM:312150 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis |
OMIM:614328 |
Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal ... |
ORPHA:2847 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Pyloric stenosis, Rib fusion, Obesity, Cleft palate, Scoliosis, Failure to thrive, Abnormal verte... |
ORPHA:261197 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis |
OMIM:252900 |
Refractory Celiac Disease |
|
Jejunitis, Villous atrophy, Protein-losing enteropathy, Malabsorption |
ORPHA:398063 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin ribs, Gastroesophageal re... |
ORPHA:73230 |
Alagille Syndrome |
|
Failure to thrive, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral segm... |
ORPHA:52 |
Phaver Syndrome |
|
Abnormal rib morphology, Butterfly vertebrae, Abnormal form of the vertebral bodies |
ORPHA:2876 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Ileal ulcer |
OMIM:616744 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Rib fusion, Posteri... |
OMIM:611209 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Anal atresia, Missing ribs |
ORPHA:3301 |
Cole-Carpenter Syndrome 2 |
|
Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, High palate |
OMIM:616294 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Biconvex vertebral bodies, Aganglionic megacolon, Sacral dimple, F... |
ORPHA:175 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Cleft palate, Thin ribs |
OMIM:253290 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hematochezia, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Gastrointestinal carc... |
OMIM:175050 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Aicardi Syndrome |
|
Block vertebrae, Hiatus hernia, Missing ribs, Rib fusion, Hemivertebrae, Cleft palate, Carcinoma,... |
OMIM:304050 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Small for gestational age, Thoracic hypoplasia, Large for gestational age |
ORPHA:254534 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Broad ribs, Failure to thrive in infancy, Flaring of rib cage, Fused cervical vertebrae |
OMIM:612852 |
Pontine Tegmental Cap Dysplasia |
|
Failure to thrive, Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis, Thin ribs |
OMIM:259420 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon |
OMIM:155310 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... |
ORPHA:70475 |
Dextrocardia |
|
Neuroblastoma, Meckel diverticulum, Abnormal rib morphology, Intestinal malrotation |
ORPHA:1666 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Decreased body weight, Cleft palate, Thin ribs |
OMIM:618265 |
Aspergillosis |
|
Abnormality of the vertebral column, Abnormal rib morphology, Abnormal esophagus morphology, Hema... |
ORPHA:1163 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Protein-losing enteropathy |
ORPHA:79319 |
Mednik Syndrome |
|
Volvulus, Jejunal atresia, Microcolon |
OMIM:609313 |
Osteogenesis Imperfecta, Type Xviii |
|
Vertebral compression fracture, Biconcave vertebral bodies, Thin ribs |
OMIM:617952 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, High, narrow palate, Abnormal sacrum morphology, Ab... |
ORPHA:1452 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, Rectal atresia, ... |
OMIM:115470 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Patent ductus arteriosus, Tracheoesophageal fistul... |
ORPHA:210122 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology |
ORPHA:2772 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae |
OMIM:252920 |
Mucopolysaccharidosis, Type Ivb |
|
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyl... |
OMIM:253010 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebr... |
OMIM:230500 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... |
OMIM:115310 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Obesity, Irregular chondrocostal junctions... |
OMIM:250420 |
Cenani-Lenz Syndrome |
|
High, narrow palate, Scoliosis, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:3258 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, Anal stenosis, 11 pairs of ribs, Anomalous rib insertion to vertebrae,... |
OMIM:117650 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Malabsorption |
OMIM:600955 |
Mosaic Trisomy 8 |
|
Short neck, Abnormal rib morphology, Cleft palate, Vertebral segmentation defect, High palate, Na... |
ORPHA:96061 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Esophageal atresia, Rib fusion, Hemivertebrae, Supernumerary ribs... |
OMIM:206900 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs |
OMIM:617895 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:1120 |
Greenberg Dysplasia |
|
Barrel-shaped chest, 11 pairs of ribs, Sternal punctate calcifications, Long clavicles, Abnormal ... |
OMIM:215140 |
Autosomal Dominant Centronuclear Myopathy |
|
Pyloric stenosis, Cavernous hemangioma, Thin ribs |
ORPHA:169189 |
Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Microcolon |
OMIM:619362 |
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 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Decreased body weight, Thin ribs |
OMIM:614833 |
Radio-Renal Syndrome |
|
High, narrow palate, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3015 |
Cantú Syndrome |
|
Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Platyspondyly, Narrow chest, ... |
ORPHA:1517 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs |
ORPHA:2519 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Short neck, Large for gestational age, Bell-shaped thorax, Coat hanger sign of ri... |
ORPHA:254519 |
Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Platyspondyly, Thin ribs |
ORPHA:163966 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... |
ORPHA:2769 |
Trisomy 1Q |
|
Anal atresia, Short thorax, Abnormal rib morphology, Cleft palate |
ORPHA:261344 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Bell-shaped thorax, Failure to thrive, Horizontal ribs |
OMIM:614857 |
Occipital Horn Syndrome |
|
Pelvic bone exostoses, Hiatus hernia, Broad clavicles, Pectus excavatum, Kyphosis, Bladder carcin... |
OMIM:304150 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Intestinal malrotation, Hamartoma of tongue, Short neck, Short thorax, Lobu... |
OMIM:269860 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Acholic stools, Steatorrhea |
OMIM:607765 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Esophageal diverticulum, Hamartoma of tongue, Lateral clavicle hook, Horizontal ribs, Short neck,... |
OMIM:617925 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Pectus excavatum, Kyphosis, Abnormal rib morphology, Cleft palate, Capillary hemangioma, Scoliosis |
ORPHA:2215 |
Schwartz-Jampel Syndrome |
|
Abnormally ossified vertebrae, Shoulder flexion contracture, Cachexia, Hyperlordosis, Pectus exca... |
ORPHA:800 |
Fg Syndrome Type 1 |
|
Sacral dimple, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Abnor... |
ORPHA:93932 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Hepatocellular carcinoma |
OMIM:601847 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Short neck, Narrow palate, Macroglossia, High palate, Narrow chest, Broad ribs |
OMIM:617022 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Failure to thrive, Pectus excavatum, Rib fusion, Cleft palate, Abnormal sternum morphology, Verte... |
ORPHA:2990 |
Bent Bone Dysplasia Syndrome 2 |
|
Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Short sternum, Short ribs, Butterf... |
OMIM:620076 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Spinal canal stenosis, Macrogl... |
ORPHA:93473 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Testicular neoplasm, Cutaneous myxoma, Abnormal rib morphology, Abn... |
ORPHA:249 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Pectus excavatum, Thin ribs, High palate, Lumbar hemivertebrae |
ORPHA:2463 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Kyphosis, Thin ribs, Platyspondyly, Scoliosis, Vertebral compression fracture |
OMIM:610915 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Short neck, Pectus excavatum, Large... |
OMIM:213980 |
Meier-Gorlin Syndrome 1 |
|
Absent sternal ossification, Small for gestational age, Lateral clavicle hook, Flat glenoid fossa... |
OMIM:224690 |
Mucolipidosis Iii Alpha/Beta |
|
Broad ribs, Short ribs, Scoliosis |
OMIM:252600 |
Oculocerebrocutaneous Syndrome |
|
Exostoses, Abnormal rib morphology, Missing ribs |
ORPHA:1647 |
Congenital Myopathy 22B, Severe Fetal |
|
Scapular winging, Thoracic scoliosis, Shoulder flexion contracture, Short neck, Pectus excavatum,... |
OMIM:620369 |
Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Undulate ribs, Cleft palate, Platyspondyly, Thoracic... |
OMIM:211350 |
Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Thin ribs |
OMIM:615368 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Vert... |
ORPHA:263508 |
Kagami-Ogata Syndrome |
|
Bell-shaped thorax, Long clavicles, Kyphoscoliosis, Thin ribs |
OMIM:608149 |
Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Hemivertebrae, Narrow palate, Thin ribs, High... |
OMIM:200980 |
Gracile Bone Dysplasia |
|
Failure to thrive, Ankyloglossia, Thin ribs |
OMIM:602361 |
Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Pyloric stenosis, Meckel diverticulum |
OMIM:616395 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Patent ductus arteriosus, Microcolon, Ileal atresia |
OMIM:619351 |
Antley-Bixler Syndrome |
|
Abnormal rib morphology, Narrow chest, Cleft palate |
ORPHA:83 |
Otopalatodigital Syndrome Type 2 |
|
Failure to thrive, Abnormal rib morphology, Cleft palate, Glossoptosis, Narrow chest, Scoliosis, ... |
ORPHA:90652 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Cleft palate, Abnormal rib morphology, Scoliosis |
ORPHA:1300 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal ribs, Thoracic platysp... |
OMIM:618019 |
Serkal Syndrome |
|
Malrotation of small bowel |
ORPHA:139466 |
Frontometaphyseal Dysplasia 1 |
|
Scapular winging, Cleft palate, Fused cervical vertebrae, Coat hanger sign of ribs, High palate, ... |
OMIM:305620 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Abnormal rib morphology, Narrow chest, Abnormal scapula morphology |
ORPHA:93317 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Patent ductus arteriosus, Tracheoesophageal fistula, Duodenal stenos... |
ORPHA:141127 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Lateral clavicle hook, Pectus excavatum, Narrow palate, Pectus carinatum, Thin ribs, Gastroesopha... |
OMIM:182212 |
Craniometadiaphyseal Dysplasia |
|
Broad ribs, High palate, Scoliosis |
OMIM:269300 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Hamartoma of tongue, Horizontal ribs, Cleft palate, Bell-shaped thorax, Lobulated tongue, Narrow ... |
OMIM:616300 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Exostosis of the external auditory canal, Long clavicles, Thoracolumbar scoliosis, Down-sloping s... |
OMIM:265000 |
Severe Congenital Nemaline Myopathy |
|
Thin ribs, Abnormal thorax morphology, Dysphagia |
ORPHA:171430 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Fat malabsorption |
OMIM:211600 |
Mucopolysaccharidosis, Type Vi |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, Hypoplasia ... |
OMIM:253200 |
Kindler Epidermolysis Bullosa |
|
Esophageal stricture, Abnormal rib morphology, Neoplasm of the urethra, Squamous cell carcinoma, ... |
ORPHA:2908 |
Osteopathia Striata With Cranial Sclerosis |
|
Anal stenosis, Intestinal malrotation, Pectus excavatum, Cleft palate, Straight clavicles, Gastro... |
OMIM:300373 |
Xylt1-Cdg |
|
Broad ribs, Truncal obesity, Short clavicles, Cleft palate |
ORPHA:370930 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption |
OMIM:214950 |
Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
Pyknoachondrogenesis |
|
Short thorax, Poorly ossified vertebrae, Enlarged thorax, Unossified sacrum, Short ribs, Horizont... |
ORPHA:3003 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
11 pairs of ribs, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Cupped ribs, Cleft palate, ... |
OMIM:271640 |
Oculoskeletodental Syndrome |
|
Macroglossia, Protein-losing enteropathy, Cryptorchidism |
OMIM:618440 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cryptorchidism, High palate, Protein-losing enteropathy, Cleft palate |
OMIM:235255 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption |
ORPHA:79302 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin clavicles, Long clavicles, Thin ribs |
OMIM:244460 |
Myotubular Myopathy With Abnormal Genital Development |
|
High palate, Thin ribs |
OMIM:300219 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Ovoid thoracolumbar vertebrae, H... |
OMIM:252940 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cryptorchidism, Rectal prolapse, Narrow palate, Protein-losing enteropathy, Intestinal lymphangie... |
OMIM:235510 |
Chylomicron Retention Disease |
|
Fat malabsorption, Steatorrhea |
ORPHA:71 |
Sclerosteosis 1 |
|
Broad ribs, Sclerotic vertebral endplates, Sclerotic scapulae, Broad clavicles |
OMIM:269500 |
Hallermann-Streiff Syndrome |
|
Small for gestational age, Hyperlordosis, Pectus excavatum, High, narrow palate, Narrow palate, T... |
OMIM:234100 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin clavicles, Thin ribs |
ORPHA:93324 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Ileus, Aganglionic megacolon, Microcolon |
ORPHA:163746 |
Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Pectus carinatum, Sh... |
OMIM:607778 |
Hyperparathyroidism, Transient Neonatal |
|
Undulate ribs, Thin ribs, Gastroesophageal reflux, Short ribs, Narrow chest, Fractured rib |
OMIM:618188 |
Osteogenesis Imperfecta |
|
Multiple rib fractures, Intestinal obstruction, Small for gestational age, Cervical kyphosis, Pec... |
ORPHA:666 |
Netherton Syndrome |
|
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia |
OMIM:256500 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Colitis, Malabsorption |
OMIM:209920 |
Fanconi Anemia, Complementation Group D2 |
|
Esophageal atresia, Patent ductus arteriosus, Cryptorchidism, Prolonged G2 phase of cell cycle, T... |
OMIM:227646 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Fat malabsorption, Steatorrhea |
ORPHA:79303 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Sacral dimple, Kyphosis, Abnormal thorax morphology, Rib fusion, ... |
ORPHA:280 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Rhabdomyosarcoma, Adrenocortical carcinoma, Cleft palate, Leiomyosarcoma, Macrogl... |
ORPHA:116 |
Carney Triad |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenom... |
ORPHA:139411 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Thoracic hypoplasia, Short neck, Esophageal atresi... |
OMIM:229850 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Spinal canal stenosis, Narrow palate, Scoliosis, Broad ribs |
OMIM:277600 |
Van Den Ende-Gupta Syndrome |
|
Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Lateral clavicle hook, Pectus exca... |
OMIM:600920 |
Primary Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Abnormal small intestinal villus morphology, Increased stool alpha1-... |
ORPHA:90362 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Short neck, Hypoplasia of first ribs, Macroglossia, Shor... |
OMIM:269150 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Thoracic scoliosis, Absent sternal ossifica... |
OMIM:114290 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Celiac disease, Sacral dimple, Rib fusion, Large for gestational age |
ORPHA:544488 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Nephroblastoma, Short neck, Pectus excavatum, High, narrow palate, Abnormal rib... |
ORPHA:373 |
Immunodeficiency 31C |
|
Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception |
OMIM:614162 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cupped ribs, Platyspondyly, Ovoid vertebral bodies, Scoliosis |
ORPHA:85167 |
Kbg Syndrome |
|
Vertebral fusion, Short neck, Rib fusion, Vertebral arch anomaly, Cervical ribs, Thoracic kyphosis |
OMIM:148050 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Pectus excavatum, Macroglossia, Prominent sternum, Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254528 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Pectus excavatum, Miss... |
OMIM:268310 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, High palate, Protein-losing enteropathy |
ORPHA:1655 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Failure to thrive, Broad clavicles, Hemivertebrae, Cleft palate, Anteriorly placed anus, Broad ri... |
OMIM:151050 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Malabsorption, Abnormal rib morphology, Abnormal form of the verteb... |
ORPHA:581 |
Nestor-Guillermo Progeria Syndrome |
|
Thin ribs, Rib osteolysis, Progressive clavicular acroosteolysis, Scoliosis, Failure to thrive |
OMIM:614008 |
Restrictive Dermopathy |
|
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Thin clavicles, Submucous cleft har... |
ORPHA:1662 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... |
ORPHA:512 |
Vater/Vacterl Association |
|
Esophageal atresia, Abnormal rib morphology, Tracheoesophageal fistula, Abnormal sternum morpholo... |
OMIM:192350 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Abnormal rib morphology, Xerostomia, Squamous cell car... |
ORPHA:2907 |
Tarp Syndrome |
|
Cleft palate, Tongue nodules, Glossoptosis, High palate, Meckel diverticulum |
OMIM:311900 |
Myhre Syndrome |
|
Submucous cleft hard palate, Abnormal rib morphology, Cleft palate, Platyspondyly, Bifid uvula |
ORPHA:2588 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Colon perforation, Intestinal malrotation, Cervical ribs, Microcolon |
OMIM:600001 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Sacrococcygeal teratoma, Aganglionic megacolon, Nephroblastoma, Kyp... |
ORPHA:798 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Kyphoscoliosis, Short neck, Pectus ex... |
ORPHA:96334 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Short neck, Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Vertebral se... |
ORPHA:1507 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, ... |
OMIM:265380 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Short neck, Facial capillary hemangioma, Pyloric stenosis, Kyphosis, Abnor... |
ORPHA:818 |
Trisomy 18 |
|
Esophageal atresia, Abnormal rib morphology, Narrow palate, Cleft palate, Anal atresia |
ORPHA:3380 |
Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Cervical ribs, Scoliosis, Thin ribs |
OMIM:601812 |
Pallister-Hall Syndrome |
|
Midline facial capillary hemangioma, Rib fusion, Hemivertebrae, Cleft palate, Anteriorly placed a... |
OMIM:146510 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Short neck, Cupped ribs, Horizontal inferior border of scapula, Platyspondyly, ... |
OMIM:250220 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Cryptorchidism, Protein-losing enteropathy |
OMIM:618183 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Small for gestational age, Kyphoscoliosis, Missing ribs, Rib fusion, He... |
ORPHA:97360 |
Monosomy 9P |
|
Short neck, Abnormal rib morphology, Cleft palate, Abnormality of the vertebral column, High pala... |
ORPHA:261112 |
Ellis-Van Creveld Syndrome |
|
Short ribs, Narrow chest, Horizontal ribs, Pectus carinatum |
OMIM:225500 |
Tarp Syndrome |
|
Cryptorchidism, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue nodules |
ORPHA:2886 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypoplastic scapulae, High, narrow palate, Abnormal rib morphology, Anteriorly placed anus, Gastr... |
ORPHA:95699 |
Femoral-Facial Syndrome |
|
Missing ribs, Absent vertebra, Rib fusion, Hemivertebrae, Cleft palate, Gastroesophageal reflux, ... |
OMIM:134780 |
Zttk Syndrome |
|
Kyphosis, Submucous cleft hard palate, Rib fusion, Hemivertebrae, Cervical ribs, High palate, Sco... |
OMIM:617140 |
Mosaic Trisomy 16 |
|
Anteriorly placed anus, Abnormality of the gastrointestinal tract, Patent ductus arteriosus, Meck... |
ORPHA:1708 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Cryptorchidism, Malrotation of small bowel, High palate, Cleft palate |
ORPHA:2953 |
Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovitis, Vertebral hyp... |
ORPHA:89936 |
Alagille Syndrome 1 |
|
Abnormal rib morphology, Hemivertebrae, Papillary thyroid carcinoma, Failure to thrive, Butterfly... |
OMIM:118450 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Glomus jugular tumor... |
ORPHA:97685 |
Stuve-Wiedemann Syndrome 1 |
|
Ovoid vertebral bodies, Short neck, Thin ribs, Smooth tongue, Scoliosis |
OMIM:601559 |
Pseudo-Torch Syndrome 2 |
|
Thin ribs |
OMIM:617397 |
Ear-Patella-Short Stature Syndrome |
|
Aplastic clavicle, High, narrow palate, Submucous cleft hard palate, Abnormal rib morphology, Cle... |
ORPHA:2554 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine |
OMIM:200995 |
Myhre Syndrome |
|
Vertebral fusion, Small for gestational age, Short neck, Obesity, Cleft palate, Enlarged vertebra... |
OMIM:139210 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Spina bifida occulta, Abnormal rib morphology, Short neck |
ORPHA:488434 |
Eiken Syndrome |
|
Broad ribs, Decreased body weight |
OMIM:600002 |
Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Small for gestational age, Kypho... |
OMIM:194190 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Duodenal stenosis |
ORPHA:2470 |
Weill-Marchesani Syndrome 2 |
|
Lumbar hyperlordosis, Spinal canal stenosis, Narrow palate, High palate, Scoliosis, Broad ribs |
OMIM:608328 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Pyloric stenosis, Cleft palate, Cleft vertebral arch, Thin ribs, Fused cervical v... |
ORPHA:83617 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Broad ribs, Obesity, Cleft palate, Hyperlordosis |
OMIM:301066 |
Oculocerebrorenal Syndrome Of Lowe |
|
Benign neoplasm of the central nervous system, Malabsorption, Kyphosis, Abnormal rib morphology, ... |
ORPHA:534 |
Fanconi Anemia |
|
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Cryptorchidism, Patent ductus arteriosus,... |
ORPHA:84 |
Alpha-Mannosidosis, Infantile Form |
|
Thickened ribs, Short neck, Pectus excavatum, Pectus carinatum, Macroglossia, Platyspondyly, Recu... |
ORPHA:309282 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Pyloric stenosis, Kyphosis, Rib fusion, Spinal canal stenosis, Gastroesophageal... |
ORPHA:1606 |
Fanconi Anemia, Complementation Group E |
|
Cryptorchidism, Prolonged G2 phase of cell cycle |
OMIM:600901 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Thoracic dysplasia, Short ribs, Narrow chest, Horizontal ribs |
OMIM:208500 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Aplasia of the epiglottis, Short ribs, Narrow chest, Short clavicles, Hamartoma, Horizontal ribs |
OMIM:617088 |
Ulbright-Hodes Syndrome |
|
Short neck, Abnormal rib morphology, Ovoid thoracolumbar vertebrae, Thin ribs, Short sternum, Sho... |
ORPHA:3404 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Pectus excavatum, Narrow chest, Scoliosis, Vertebral compression fracture |
OMIM:610682 |
Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Lymphoma, Anal atresia |
ORPHA:1572 |
Fanconi Anemia, Complementation Group A |
|
Cryptorchidism, Prolonged G2 phase of cell cycle |
OMIM:227650 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Kyphoscoliosis, Thin ribs, Platyspondyly, Progressive congenital sco... |
OMIM:225400 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Gastritis, Hematemesis, Enterocolitis, Hematochezia, Melena, Unusual... |
ORPHA:73263 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Fat malabsorption |
ORPHA:96180 |
Fanconi Anemia, Complementation Group C |
|
Cryptorchidism, Prolonged G2 phase of cell cycle |
OMIM:227645 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, High palate, Abnormal duoden... |
OMIM:601776 |
Fraser Syndrome 1 |
|
Cryptorchidism, Abnormal small intestine morphology, Cleft palate, Abnormality of the anus |
OMIM:219000 |
Fetal Akinesia Deformation Sequence 1 |
|
Small for gestational age, Short neck, High, narrow palate, Cleft palate, Thin ribs, High palate,... |
OMIM:208150 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Protein-losing enteropathy, He... |
ORPHA:731 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Barrel-shaped chest, Pilonidal sinus, Broad clavicles, Congenital pseudoarthrosis of the clavicle... |
OMIM:276820 |
Isolated Biliary Atresia |
|
Acholic stools, Fat malabsorption |
ORPHA:30391 |
Charge Syndrome |
|
Abnormal soft palate morphology, Abnormal rib morphology, Tracheoesophageal fistula, Cleft palate... |
ORPHA:138 |
Baller-Gerold Syndrome |
|
Rib fusion, Cleft palate, Perineal fistula, Anteriorly placed anus, Rectovaginal fistula, High pa... |
OMIM:218600 |
Cranioectodermal Dysplasia 2 |
|
Short neck, Pectus excavatum, Cleft palate, High palate, Short ribs, Narrow chest, Horizontal ribs |
OMIM:613610 |
Craniotubular Dysplasia, Ikegawa Type |
|
Increased intervertebral space, Broad ribs, Platyspondyly |
OMIM:619727 |
Cardiospondylocarpofacial Syndrome |
|
Rib fusion, Fused cervical vertebrae, Herniation of intervertebral nuclei, Scoliosis, Failure to ... |
OMIM:157800 |
Charge Syndrome |
|
Anal stenosis, Down-sloping shoulders, Esophageal atresia, Abnormal rib morphology, Tracheoesopha... |
OMIM:214800 |
Abetalipoproteinemia |
|
Fat malabsorption, Steatorrhea |
ORPHA:14 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short neck, Pectus excavatum, Undulate ribs, High palate, Short clavicles |
OMIM:609945 |
Thrombocytopenia-Absent Radius Syndrome |
|
Patent ductus arteriosus, Meckel diverticulum, Cleft palate |
OMIM:274000 |
Trisomy 8P |
|
Cryptorchidism, Malrotation of small bowel, Bifid uvula, Cleft palate |
ORPHA:264450 |
Shwachman-Diamond Syndrome |
|
Abnormality of the gastrointestinal tract, Fat malabsorption, Steatorrhea |
ORPHA:811 |
Townes-Brocks Syndrome |
|
Rectoperineal fistula, Abnormal rib morphology, Anteriorly placed anus, Rectovaginal fistula, Abn... |
ORPHA:857 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Macroglossia, Thickened ribs, Abnormal vertebral morphology, Spinal canal stenosis |
ORPHA:217085 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pectus excavatum, High palate, Failure to thrive, Prominent floating ribs |
ORPHA:2785 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Macroglossia, Thickened ribs, Abnormal vertebral morphology, Spinal canal stenosis |
ORPHA:217093 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Failure to thrive in infancy, Kyphoscoliosis, Rib fusion, Hemivertebrae, Cl... |
ORPHA:500150 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Pectus excavatum, High palate, Supernumerary ribs, Thin ribs |
OMIM:619127 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:991 |
Liver Disease, Severe Congenital |
|
Hydrocele testis, Chronic gastritis, Patent ductus arteriosus, Protein-losing enteropathy |
OMIM:619991 |
Viss Syndrome |
|
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... |
OMIM:619472 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Pyloric stenosis, Small bowel diverticula |
ORPHA:90349 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Submucous cleft hard palate, Rib fusion, Obesity, High palate, Scoliosis, Bifid... |
OMIM:607872 |
Coccidioidomycosis |
|
Broad ribs, Abnormality of the vertebral column |
ORPHA:228123 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal rib morphology, Narrow chest |
ORPHA:667 |
Wiedemann-Rautenstrauch Syndrome |
|
Small for gestational age, Short neck, Thin ribs, Narrow chest, Scoliosis, Failure to thrive |
OMIM:264090 |
Pallister-Hall Syndrome |
|
Osteochondroma, Midline facial capillary hemangioma, Large for gestational age, Rib fusion, Hemiv... |
ORPHA:672 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosu... |
OMIM:312870 |
Osteopetrosis, Autosomal Recessive 7 |
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Multiple rib fractures |
OMIM:612301 |
Genitopatellar Syndrome |
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Anal stenosis, Cryptorchidism, Malrotation of small bowel, Anteriorly placed anus, Dysphagia, Ana... |
OMIM:606170 |
Autosomal Dominant Cutis Laxa |
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Small bowel diverticula |
ORPHA:90348 |