{"orpha":2710,"name":"Oculodentodigital dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Meyer-Schwickerath syndrome","Meyer-Schwickerath-Weyers syndrome","ODDD syndrome","ODOD syndrome","Oculo-dento-digital dysplasia","Oculodentodigital syndrome","Oculodentodigitalis dysplasia","Oculodentoosseous dysplasia","Osseous-oculo-dental dysplasia"],"definition":"A rare congenital malformation syndrome characterized by craniofacial, ocular, dental, digital anomalies and neurologic symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2710/","orphanet_url":"https://www.orpha.net/en/disease/detail/2710","names":{"fr":{"name":"Dysplasie oculo-dento-digitale","synonyms":["DODD","Dysplasie oculo-dento-osseuse","Syndrome de Meyer-Schwickerath","Syndrome oculo-dento-digital"],"definition":"Syndrome malformatif congénital rare caractérisé par des anomalies craniofaciales, oculaires, dentaires et digitales, ainsi que par des symptômes neurologiques."},"de":{"name":"Dysplasie, okulo-dento-digitale","synonyms":["Dysplasie, okulo-dento-ossäre","Meyer-Schwickerath-Syndrom","Meyer-Schwickerath-Weyers-Syndrom","ODDD-Syndrom","ODOD-Syndrom"],"definition":"Ein seltenes kongenitales Fehlbildungssyndrom, das durch kraniofaziale, okuläre, dentale und digitale Anomalien sowie neurologische Symptome gekennzeichnet ist."},"es":{"name":"Displasia oculodentodigital","synonyms":["Displasia oculodentoósea","Displasia óculo-dento-digital","Displasia óseo-óculo-dental","Síndrome de Meyer-Schwickerath","Síndrome de Meyer-Schwickerath-Weyers","Síndrome óculo-dento-digital"],"definition":"Es un síndrome malformativo congénito poco frecuente caracterizado por anomalías craneofaciales, oculares, dentales, digitales y síntomas neurológicos."},"it":{"name":"Displasia oculo-dento-digitale","synonyms":["Displasia oculodentoossea","Sindrome ODDD","Displasia oculo-dento-ossea","Sindroe Meyer-Schwickerath","Sindrome Meyer-Schwickerath-Weyers","Sindrome ODOD","Displasia oculo-dento-digitale","Sindrome oculodentodigitale","Displasia oculodentodigitale"],"definition":"La displasia oculo-dento-digitale (DODD) è una malattia rara da malformazioni congenite, caratterizzata da anomalie craniofacciali, oculari, e delle dita, e da sintomi neurologici."},"nl":{"name":"Oculodentodigitale dysplasie","synonyms":["ODDD-syndroom","ODOD-syndroom","Oculodento-ossale dysplasie","Oculodentodigitaal syndroom","Syndroom van Meyer-Schwickerath","Syndroom van Meyer-Schwickerath-Weyers"],"definition":"Een zeldzaam congenitaal malformatiesyndroom, gekenmerkt door craniofaciale, oculaire, dentale en digitale anomalieën, en neurologische symptomen."},"pt":{"name":"Displasia oculo-dento-digital","synonyms":["Displasia oculo-dento-óssea","Síndrome Meyer-Schwickerath","Síndrome ODDD"],"definition":"Síndrome de malformação congénita rara caracterizada por anomalias craniofaciais, oculares, dentárias, digitais e sintomas neurológicos."},"pl":{"name":"Dysplazja oczno-zębowo-palcowa","synonyms":["Dysplazja oczno - zębowo-kostna","Zespół Meyera i Schwickeratha","Zespół ODDD"]},"cs":{"name":"Okulodentodigitální dysplázie","synonyms":["ODDD syndrom","Okulodentooseózní dysplázie","Meyer-Schwickerathův syndrom"]},"uk":{"name":"Окулодентодигітальна дисплазія","synonyms":["Синдром Мейєра-Швінкерата","Окуло-зубощелепна дисплазія","Синдром передозування"],"definition":"A rare congenital malformation syndrome characterized by craniofacial, ocular, dental, digital anomalies and neurologic symptoms."},"zh":{"name":"眼齿指发育不良","synonyms":["眼牙骨发育不良"]},"tr":{"name":"Okülodentodijital displazi","synonyms":["ODDD sendromu","Meyer-Schwickerath sendromu","Okülodentoosseöz displazi"]}},"xrefs":[{"source":"OMIM","code":"164200","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"257850","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1440334374"},{"source":"MONDO","code":"0008111","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563160","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0812437","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7239","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063691","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":568047,"name":"Disorder with multisystemic involvement and primary lymphedema","classifications":[147,156,187,198]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"GJA1","name":"gap junction protein alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16378922[PMID]_24508941[PMID]","hgnc":"4274","ensembl":"ENSG00000152661","omim":"121014","loci":["6q22.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":243.0,"area":"Worldwide","status":"Validated","source":"12021949[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000598","label":"Abnormality of the ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000366","label":"Abnormality of the nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010761","label":"Broad columella","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006323","label":"Premature loss of primary teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003103","label":"Abnormal cortical bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009843","label":"Aplasia/Hypoplasia of the middle phalanges of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000187","label":"Broad alveolar ridges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004437","label":"Cranial hyperostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002212","label":"Curly hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100774","label":"Hyperostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000161","label":"Median cleft lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000011","label":"Neurogenic bladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002217","label":"Slow-growing hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000940","label":"Abnormal diaphysis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral 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(29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003067","label":"Madelung deformity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010109","label":"Short hallux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000679","label":"Taurodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}