{"orpha":1185,"name":"Spinocerebellar ataxia-dysmorphism syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare hereditary ataxia characterized by unusual facies (i. e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1185/","orphanet_url":"https://www.orpha.net/en/disease/detail/1185","names":{"fr":{"name":"Syndrome d'ataxie spinocérébelleuse-dysmorphie","definition":"Ataxie héréditaire rare caractérisée par des traits particuliers du visage (c'est-à-dire, des cheveux épais et abondants, un léger ptosis, des lèvres épaisses avec des commissures orientées vers le bas), une dysarthrie, un retard du développement psychomoteur, une scoliose, des déformations des pieds et une ataxie. Aucun cas n'a été décrit dans la littérature depuis 1985."},"de":{"name":"Spinozerebelläre Ataxie-Dysmorphie-Syndrom","definition":"Eine seltene hereditäre Ataxie, die durch ungewöhnliche Gesichtsmerkmale (leichte Lidkantenverkrümmung, dicke Lippen und nach unten gekrümmte Mundwinkel), grobes, raues und üppiges Haar, Dysarthrie, verzögerte psychomotorische Entwicklung, Skoliose, Fehlbildungen der Füße und Ataxie gekennzeichnet ist. Seit 1985 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de ataxia espinocerebelosa-dismorfia","definition":"Es una ataxia hereditaria poco frecuente caracterizada por una facies característica (pelo grueso, áspero y abundante, ptosis palpebral leve, labios gruesos y comisuras de la boca descendentes), disartria, retraso del desarrollo psicomotor, escoliosis, deformidades del pie y ataxia. No ha habido más casos descritos en la literatura desde 1985."},"it":{"name":"Sindrome atassia spinocerebellare-dismorfismi","definition":"Si tratta di un'atassia ereditaria rara, caratterizzata da dismorfismi facciali (capelli folti e ispidi, lieve ptosi palpebrale, labbra carnose, angoli della bocca rivolti verso il basso), disartria, ritardo dello sviluppo psicomotorio, scoliosi, deformità dei piedi e atassia. Non sono stati descritti nuovi casi dopo il 1985."},"nl":{"name":"Spinocerebellaire ataxie - dysmorfie-syndroom","definition":"Een zeldzame, hereditaire ataxie, gekarakteriseerd door ongewoon aangezicht (i.e. grof, ruw en overvloedig haar, milde ptose van ooglid, dikke lippen, en naar beneden gerichte mondhoeken), dysartrie, psychomotorische ontwikkelingsachterstand, scoliose, voetmisvormingen, en ataxie. Sinds 1985 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de ataxia espinocerebelosa-dismorfia"},"pl":{"name":"Ataksja rdzeniowo-módżkowa - dysmorfizm"},"cs":{"name":"Syndrom zahrnující spinocerebelární ataxii a dysmorfismus"},"uk":{"name":"Синдром спіноцеребелярної атаксії-дизморфізму","definition":"A rare hereditary ataxia characterized by unusual facies (i. e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985."},"zh":{"name":"脊髓小脑共济失调-畸形综合征"},"tr":{"name":"Spinoserebellar ataksi-dismorfizm sendromu"}},"xrefs":[{"source":"OMIM","code":"271270","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010062","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796166","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4958","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183518,"name":"Hereditary ataxia","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3980016[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3980016[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002816","label":"Genu recurvatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003100","label":"Slender long bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Frequent (79-30%)","criteria":null}]}}