{"orpha":3231,"name":"Deafness-onychodystrophy syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Hearing loss-onychodystrophy syndrome"],"definition":"Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3231/","orphanet_url":"https://www.orpha.net/en/disease/detail/3231","names":{"fr":{"name":"Syndrome de surdité-onychodystrophie","definition":"Groupe de maladies rares, d'origine génétique, liées à une anomalie rare du développement embryonnaire et caractérisées par l'association d'une surdité neurosensorielle et d'une onychodystrophie (absence/hypoplasie d'ongles des doigts et des orteils), ainsi que d'une brachydactylie et d'un pouce en forme de doigt. Parmi les autres caractéristiques décrites dans les maladies de ce groupe figurent une ostéodystrophie, une déficience intellectuelle, des crises convulsives, un retard de développement et un faciès particulier."},"de":{"name":"Schwerhörigkeit-Onychodystrophie-Syndrom"},"es":{"name":"Síndrome de sordera-onicodistrofia","synonyms":["Síndrome de hipoacusia-onicodistrofia"],"definition":"El síndrome de sordera - onicodistrofia, es un grupo de trastornos por defecto del desarrollo embrionario, genéticos y poco frecuentes, caracterizados por la asociación de sordera neurosensorial y onicodistrofia (p. ej., dedos y uñas de los pies ausentes / hipoplásicos), así como braquidactilia y pulgares trifalángicos. Otras características adicionales presentes en una de las enfermedades comprendidas en este grupo incluyen osteodistrofia, discapacidad intelectual, convulsiones, retraso del desarrollo y facies característica."},"it":{"name":"Sindrome sordità e onicodistrofia","synonyms":["Sindrome DDOD","Sindrome sordità-onicodistrofia, autosomica dominante"],"definition":"La sindrome che associa la sordità e l'onicodistrofia comprende un gruppo di difetti genetici rari dello sviluppo dell'embrione, caratterizzati da sordità, onicodistrofia (aplasia/ipoplasia delle unghie delle mani e dei piedi), brachidattilia e digitalizzazione dei pollici. Altri segni clinici caratteristici sono l'osteodistrofia, la disabilità intellettiva, le crisi epilettiche, il ritardo dello sviluppo e la facies caratteristica."},"nl":{"name":"Doofheid - onychodystrofie-syndroom","definition":"Doofheid - onychodystrofie-syndroom is een groep van zeldzame, genetische ontwikkelingsdefecten tijdens de embryogenese die worden geassocieerd door de associatie van sensorineurale doofheid en onychodystrofie (e.g. afwezige/hypoplastische vinger- en teennagels), alsook brachydactylie en vingerachtige duimen. Bijkomende kenmerken die aanwezig zijn bij één van de ziekten behorend tot deze groep zijn onder meer osteodystrofie, intellectuele achterstand, insulten, ontwikkelingsachterstand, en een kenmerkend gelaat."},"pt":{"name":"Síndrome de surdez-onicodistrofia","synonyms":["Síndrome de perda auditiva-onicodistrofia"]},"pl":{"name":"Zespół niedosłuchu i onychodystrofii","synonyms":["Zespół autosomalnie dominującej głuchoty i onychodystrofii","Zespół DDOD"],"definition":"*Zespół niedosłuchu i onychodystrofii należy do grupy rzadkich, genetycznie uwarunkowanych wad rozwojowych powstających w czasie zaburzeń embriogenezy, które charakteryzują się niedosłuchem czuciowo-nerwowym w skojarzeniu z onychodystrofią (np. brak/hipoplazja palców u rąk i nóg), a także brachydaktylią i kciukami przypominającymi swą budową palce. Dodatkowe objawy opisywane w chorobach z tej grupy to osteodystrofia, niepełnosprawność intelektualna, drgawki, opóźnienie rozwoju i charakterystyczna twarz."},"cs":{"name":"Syndrom zahrnující hluchotu a onychodystrofii","synonyms":["Hearing loss-onychodystrophy syndrome"]},"uk":{"name":"Синдром глухоти-оніходистрофії","synonyms":["Синдром приглухуватості-оніходистрофії"],"definition":"Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies."},"zh":{"name":"耳聋-甲营养不良综合征","synonyms":["听力丧失-甲营养不良综合征"]},"tr":{"name":"Sağırlık-onikodistrofi sendromu","synonyms":["İşitme kaybı onikodistrofi sendromu"]}},"xrefs":[{"source":"OMIM","code":"124480","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"220500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"MONDO","code":"17922","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751208","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":79370,"name":"Syndromic nail anomaly","classifications":[156,187]}],"children":[{"orpha":79499,"name":"Autosomal dominant deafness-onychodystrophy syndrome","type":"Malformation syndrome"},{"orpha":79500,"name":"DOORS syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}