{"orpha":3387,"name":"Isolated anterior cervical hypertrichosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hairy throat syndrome","Tsukahara-Kajii syndrome"],"definition":"A rare form of localised hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3387/","orphanet_url":"https://www.orpha.net/en/disease/detail/3387","names":{"fr":{"name":"Hypertrichose cervicale antérieure isolée","synonyms":["Syndrome de Tsukahara-Kajii","Syndrome de la gorge poilue"],"definition":"Forme rare d'hypertrichose localisée, caractérisée par l'apparition dès la petite enfance d'une touffe de poils longs en regard du relief du larynx."},"de":{"name":"Hypertrichose, ventrale zervikale, isolierte","synonyms":["Hairy-throat-Syndrom"],"definition":"Eine seltene Form der lokalisierten Hypertrichose, die durch Haarwuchs in der Nähe des Kehlkopfes während der Kindheit gekennzeichnet ist."},"es":{"name":"Hipertricosis cervical anterior aislada","definition":"Es una forma poco frecuente de hipertricosis localizada, caracterizada por el crecimiento del cabello cerca de la prominencia laríngea durante la infancia."},"it":{"name":"Ipertricosi cervicale anteriore isolata","synonyms":["Sindrome da irsutismo anteriore del collo","Sindrome di Tsukahara-Kajii"]},"nl":{"name":"Geïsoleerde anterieure cervicale hypertrichose","synonyms":["Hairy throat-syndroom","Syndroom van Tsukahara-Kajii"],"definition":"Een zeldzame vorm van gelokaliseerde hypertrichose, gekenmerkt door haargroei nabij prominentia laryngea (adamsappel) tijdens de kindertijd."},"pt":{"name":"Hipertricose cervical anterior isolada","synonyms":["Síndrome Tsukahara-Kajii"]},"pl":{"name":"Izolowana przednia hipertrichoza szyi","synonyms":["Zespół Tsukahara i Kajii","Zespół owłosionego gardła"]},"cs":{"name":"Izolovaná přední krční hypertrichóza","synonyms":["Syndrom vlasatého hrdla","Tsukaharův-Kajiiho syndrom","Tsukahara-Kajiiho syndrom"]},"uk":{"name":"Ізольований гіпертрихоз передньої поверхні шиї","synonyms":["Синдром волохатого горла","Синдром Цукахара-Каджі"],"definition":"A rare form of localised hypertrichosis characterized by hair growth near the laryngeal prominence during childhood."},"zh":{"name":"孤立型颈前多毛","synonyms":["Tsukahara-Kajii综合征"]},"tr":{"name":"İzole anterior servikal hipertrikoz","synonyms":["Tüylü gırtlak sendromu","Tsukahara-Kajii sendromu"]}},"xrefs":[{"source":"OMIM","code":"600457","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L68.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"ED71","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0010887","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538390","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838123","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8438","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79365,"name":"Rare disorder with hypertrichosis","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"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}