{"orpha":1246,"name":"Brachydactyly-nystagmus-cerebellar ataxia syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Biemond syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by brachydactyly, nystagmus, and cerebellar ataxia. Intellectual deficit and strabismus have also been reported. There have been no further descriptions in the literature since 1934.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1246/","orphanet_url":"https://www.orpha.net/en/disease/detail/1246","names":{"fr":{"name":"Syndrome de brachydactylie-nystagmus-ataxie cérébelleuse","synonyms":["Syndrome de Biemond"],"definition":"Anomalies congénitales multiples / syndrome dysmorphique rare caractérisé par une brachydactylie, un nystagmus et une ataxie cérébelleuse. Une déficience intellectuelle et un strabisme ont également été rapportés. Aucun cas n'a été décrit dans la littérature depuis 1934."},"de":{"name":"Brachydaktylie-Nystagmus-zerebelläre Ataxie-Syndrom","definition":"Ein seltenes kongenitales Syndrom mit multiplen Anomalien/Dysmorphien, das durch Brachydaktylie, Nystagmus und zerebelläre Ataxie gekennzeichnet ist. Es wurde auch über intellektuelle Defizite und Strabismus berichtet. Seit 1934 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de braquidactilia-nistagmo-ataxia cerebelosa","synonyms":["Síndrome de Biemond"],"definition":"Es un síndrome dismórfico/ de anomalías congénitas múltiples poco frecuente caracterizado por braquidactilia, nistagmo y ataxia cerebelosa. También se ha descrito discapacidad intelectual y estrabismo. No ha habido más descripciones en la literatura desde 1934."},"it":{"name":"Sindrome brachidattilia-nistagmo-atassia cerebellare","synonyms":["Sindrome di Biemond"],"definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da brachidattilia, nistagmo e atassia cerebellare. I pazienti possono presentare anche deficit intellettivo e strabismo. Non sono stati descritti nuovi casi dopo il 1934."},"nl":{"name":"Brachydactylie - nystagmus - cerebellaire ataxie-syndroom","synonyms":["Syndroom van Biemond"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door brachydactylie, nystagmus, en cerebellaire ataxie. Intellectuele achterstand en strabisme werden ook reeds gerapporteerd. Sinds 1934 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de braquidactilia-nistagmus-ataxia cerebelosa","synonyms":["Síndrome Biemond"]},"pl":{"name":"Brachydaktylia - oczopląs - ataksja móżdżkowa","synonyms":["Zespół Biemonda"]},"cs":{"name":"Syndrom zahrnující brachydaktylii, nystagmus a cerebelární ataxii","synonyms":["Biemondův syndrom"]},"uk":{"name":"Синдром брахідактилії-ністагму-мозочкової атаксії","synonyms":["Синдром Бімонда"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by brachydactyly, nystagmus, and cerebellar ataxia. Intellectual deficit and strabismus have also been reported. There have been no further descriptions in the literature since 1934."},"zh":{"name":"短指症-眼球震颤-小脑共济失调综合征","synonyms":["Biemond综合征"]},"tr":{"name":"Brakidaktili-nistagmus-serebellar ataksi sendromu","synonyms":["Biemond sendromu"]}},"xrefs":[{"source":"OMIM","code":"113400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007226","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0344467","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"971","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"PDF:1934114230001a[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_PDF:1934114230001a[OTHER]"}],"phenotypes":null}