{"orpha":330029,"name":"Hypotrichosis-deafness syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hypotrichosis-hearing loss syndrome"],"definition":"A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-330029/","orphanet_url":"https://www.orpha.net/en/disease/detail/330029","names":{"fr":{"name":"Syndrome d'hypotrichose-surdité","definition":"Surdité génétique syndromique caractérisée par une érythrokératodermie, une hypotrichose, une dystrophie unguéale et une surdité neurosensorielle. Une association avec des érythèmes, des infections cutanées récurrentes et des mucosites est par ailleurs observée."},"de":{"name":"Hypotrichose-Schwerhörigkeit-Syndrom"},"es":{"name":"Síndrome de hipotricosis-sordera","synonyms":["Síndrome de hipotricosis-hipoacusia"],"definition":"Es una hipoacusia genética sindrómica caracterizada por eritroqueratodermia, hipotricosis, distrofia ungueal y pérdida auditiva neurosensorial . Este síndrome también se ha asociado a eritema, infecciones cutáneas recurrentes y mucositis."},"it":{"name":"Sindrome ipotricosi-sordità","definition":"È una sordità genetica sindromica caratterizzata da eritrocheratoderma, ipotricosi, distrofia ungueale e sordità neurosensoriale. Possono associarsi eritema, infezioni cutanee ricorrenti e mucosite."},"nl":{"name":"Hypotrichose-doofheid syndroom","definition":"Een syndromale, genetische doofheid die gekarakteriseerd wordt door erytrokeratodermie, hypotrichose, nageldystrofie en sensorineuraal gehoorverlies. Erytheem, recurrente huidinfecties en mucositis werden ook reeds geassocieerd."},"pt":{"name":"Síndrome de hipotricose-surdez"},"pl":{"name":"Zespół hipotrichoza-głuchota","synonyms":["Hypotrichosis-hearing loss syndrome"]},"cs":{"name":"Syndrom zahrnující hypotrichózu a hluchotu","synonyms":["Hypotrichosis-hearing loss syndrome"]},"uk":{"name":"Синдром гіпотрихозу-глухоти","synonyms":["Синдром гіпотрихозу - приглухуватості"],"definition":"A syndromic genetic deafness characterized by erythrokeratoderma, hypotrichosis, nail dystrophy and sensorineural hearing loss. Erythema, recurrent skin infections and mucositis have also been associated."},"zh":{"name":"稀毛-耳聋综合征","synonyms":["稀毛-听力丧失综合征"],"definition":"一种综合征性遗传性耳聋，特征为红皮角化病、少毛症、指甲营养不良和感音神经性听力损失。红斑，反复皮肤感染和粘膜炎也与之相关。"},"tr":{"name":"Hipotrikoz-sağırlık sendromu","synonyms":["Hipotrikoz-işitme kaybı sendromu"]}},"xrefs":[{"source":"ICD-10","code":"H90.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018021","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190988","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79364,"name":"Alopecia","classifications":[187]},{"orpha":308166,"name":"Erythrokeratoderma variabilis progressiva","classifications":[156,187]},{"orpha":481771,"name":"Genetic alopecia","classifications":[156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":79370,"name":"Syndromic nail anomaly","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"16280295[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}