{"orpha":1174,"name":"Cerebellar ataxia-ectodermal dysplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1174/","orphanet_url":"https://www.orpha.net/en/disease/detail/1174","names":{"fr":{"name":"Syndrome d'ataxie cérébelleuse-dysplasie ectodermique","definition":"Maladie rare, caractérisée par une hypodontie et une chevelure clairsemée associées à une ataxie cérébelleuse. Il n'y a pas de déficit intellectuel. Les examens d'imagerie révèlent une atrophie cérébelleuse."},"de":{"name":"Zerebelläre Ataxie-Ektodermale Dysplasie-Syndrom","definition":"Eine seltene syndromale zerebelläre Ataxie, die durch Hypodontie und schütteres Haar in Kombination mit zerebellärer Ataxie und normaler Intelligenz gekennzeichnet ist. Die Bildgebung zeigt eine Kleinhirnatrophie."},"es":{"name":"Síndrome de ataxia cerebelosa-displasia ectodérmica","definition":"Es una ataxia cerebelosa sindrómica poco frecuente caracterizada por hipodoncia y cabello escaso asociado a ataxia cerebelosa e inteligencia normal. La neuroimagen muestra atrofia cerebelosa."},"it":{"name":"Atassia cerebellare - displasia ectodermica","definition":"L'atassia cerebellare-displasia ectodermica è una malattia molto rara, caratterizzata da ipodontia e capelli radi, associata all'atassia cerebellare e ad un'intelligenza normale. Le tecniche di imaging evidenziano un'atrofia cerebellare."},"nl":{"name":"Cerebellaire ataxie - ectodermale dysplasie-syndroom","definition":"Een zeldzame syndromale cerebellaire ataxie, gekenmerkt door hypodontie en schaars haar in combinatie met cerebellaire ataxie en normale intelligentie. Beeldvorming toont cerebellaire atrofie."},"pt":{"name":"Síndrome de ataxia cerebelosa-displasia ectodérmica"},"pl":{"name":"Ataksja móżdżkowa - dysplazja ektodermalna","definition":"Rzadka syndromiczna ataksja móżdżkowa, która charakteryzuje się hipodoncją i rzadkimi włosami w połączeniu z ataksją móżdżkową i normalną inteligencją. W badaniach obrazowych widoczny jest zanik móżdżku."},"cs":{"name":"Syndrom zahrnující cerebelární ataxii a ektodermální dysplázii"},"uk":{"name":"Синдром мозочкової атаксії-ектодермальної дисплазії","definition":"A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy."},"zh":{"name":"小脑共济失调-外胚层发育不良综合征"},"tr":{"name":"Serebellar ataksi-ektodermal displazi sendromu"}},"xrefs":[{"source":"OMIM","code":"212835","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2062907441"},{"source":"MONDO","code":"0008934","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535350","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859306","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1189","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null}]}}