{"orpha":306530,"name":"Congenital hereditary facial paralysis-variable hearing loss syndrome","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital hereditary facial palsy with variable deafness","Congenital hereditary facial palsy with variable hearing loss","Congenital hereditary facial paralysis with variable deafness","Congenital hereditary facial paralysis-variable deafness syndrome"],"definition":"Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306530/","orphanet_url":"https://www.orpha.net/en/disease/detail/306530","names":{"fr":{"name":"Syndrome de paralysie faciale congénitale héréditaire-surdité variable","definition":"Maladie autosomique récessive extrêmement rare se caractérisant par une paralysie faciale bilatérale avec un visage figé, une surdité neurosensorielle, une dysmorphie faciale (rétractation médiofaciale, oreilles d'implantation basse) et un strabisme."},"de":{"name":"Kongenitale hereditäre Fazialisparese mit variablem Hörverlust","synonyms":["Gesichtslähmung, angeborene, mit variabler Schwerhörigkeit","Kongenitale hereditäre Fazialisparese-variable Schwerhörigkeit-Syndrom"]},"es":{"name":"Síndrome de parálisis facial hereditaria congénita-hipoacusia variable","synonyms":["Parálisis facial hereditaria congénita con hipoacusia variable","Parálisis facial hereditaria congénita con sordera variable","Síndrome de parálisis facial hereditaria congénita-sordera variable"],"definition":"Es un trastorno autosómico recesivo extremadamente poco frecuente caracterizado por parálisis facial bilateral con facies en máscara, pérdida auditiva neurosensorial, rasgos dismórficos (retrusión del tercio medio facial, orejas de implantación baja), y estrabismo."},"it":{"name":"Paralisi facciale ereditaria congenita con perdita di udito variabile","synonyms":["Paralisi facciale ereditaria congenita con sordità variabile"],"definition":"La paralisi facciale ereditaria congenita con sordità variabile è una malattia autosomica recessiva molto rara, caratterizzata da paralisi facciale bilaterale con facies ''da maschera'', sordità neurosensoriale, dismorfismi facciali (retrusione medio-facciale, orecchie a bassa attaccatura) e strabismo."},"nl":{"name":"Congenitale erfelijke facialisparalyse - variabel gehoorverlies-syndroom","synonyms":["Congenitale erfelijke aangezichtsverlamming - variabel gehoorverlies-syndroom","Congenitale erfelijke aangezichtsverlamming - variabele doofheid-syndroom","Congenitale erfelijke faciale paralyse met variabel gehoorverlies","Congenitale erfelijke faciale paralyse met variabele doofheid","Congenitale erfelijke facialisparalyse - variabele doofheid-syndroom","Congenitale hereditaire aangezichtsverlamming met variabel gehoorverlies","Congenitale hereditaire aangezichtsverlamming met variabele doofheid"],"definition":"Congenitale erfelijke facialisparalyse - variabel gehoorverlies-syndroom is een uiterst zeldzame, autosomaal recessieve stoornis die wordt gekarakteriseerd door bilaterale facialisverlamming met een uitdrukkingsloos gelaat, sensorineuraal gehoorverlies, dysmorfe kenmerken (retrusie van het middengezicht, laagstaande oren), en strabisme."},"pt":{"name":"Síndrome de paralisia facial congénita hereditária-perda auditiva variável"},"pl":{"name":"Wrodzony dziedziczny paraliż twarzy z utratą słuchu różnego stopnia","synonyms":["Wrodzone dziedziczne porażenie twarzy z głuchotą różnego stopnia","Wrodzone dziedziczne porażenie twarzy z utratą słuchu różnego stopnia","Wrodzony dziedziczny paraliż twarzy z głuchotą różnego stopnia"]},"cs":{"name":"Vrozená dědičná faciální paralýza s variabilní ztrátou sluchu","synonyms":["Vrozená dědičná faciální obrna s variabilní hluchotou","Vrozená dědičná faciální obrna s variabilní ztrátou sluchu","Vrozená dědičná faciální paralýza s variabilní hluchotou"]},"uk":{"name":"Синдром вродженого спадкового паралічу обличчя-варіабельної приглухуватості","synonyms":["Вроджений спадковий параліч обличчя зі змінною глухотою","Вроджений спадковий параліч обличчя зі змінною втратою слуху","Вроджений спадковий параліч лицьового нерва зі змінною глухотою","Вроджений спадковий параліч обличчя - синдром варіабельної глухоти"],"definition":"Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus."},"zh":{"name":"先天性遗传性面瘫伴可变听力损失综合征","synonyms":["先天性遗传性面瘫伴可变听力损失"],"definition":"先天性遗传性面瘫-可变听力损失综合征 是一种极为罕见的常染色体隐性遗传性疾病，其特征为双侧面瘫伴面具脸、感音神经性听力损失和畸形（面中部后缩、低位耳）和斜视。"},"tr":{"name":"Doğumsal kalıtsal yüz paralizi-değişken işitme kaybı sendromu","synonyms":["Değişken sağırlık ile seyreden doğumsal kalıtsal fasiyal felç","Değişken işitme kaybı ile seyreden doğumsal kalıtsal fasiyal felç","Değişken sağırlık ile seyreden doğumsal kalıtsal fasiyal paraliz","Doğumsal kalıtsal fasiyal paraliz-değişken sağırlık sendromu"]}},"xrefs":[{"source":"OMIM","code":"604185","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614744","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017627","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302592","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68329,"name":"Rare maxillo-facial surgical disease"},"parents":[{"orpha":98518,"name":"Congenital cranial dysinnervation disorder","classifications":[147,156,181]},{"orpha":156224,"name":"Paralytic facial malformation","classifications":[147,156,209]}],"children":[],"genes":[{"symbol":"HOXB1","name":"homeobox B1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22770981[PMID]","hgnc":"5111","ensembl":"ENSG00000120094","omim":"142968","loci":["17q21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"3775291[PMID]_22770981[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3775291[PMID]_22770981[PMID]"}],"phenotypes":null}