{"orpha":306527,"name":"Isolated hereditary congenital facial paralysis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306527/","orphanet_url":"https://www.orpha.net/en/disease/detail/306527","names":{"fr":{"name":"Paralysie faciale congénitale héréditaire isolée","definition":"Maladie neurologique extrêmement rare qui résulterait d'un développement anormal du noyau facial et/ou du nerf crânien, rapportée dans moins de 10&nbsp;familles à ce jour. Elle se manifeste par une paralysie faciale non progressive, isolée, unilatérale ou bilatérale, symétrique ou asymétrique. Les différentes branches du nerf facial peuvent être touchées à des degrés divers."},"de":{"name":"Fazialisparese, hereditäre isolierte kongenitale"},"es":{"name":"Parálisis facial congénita hereditaria aislada","definition":"Es un trastorno neurológico extremadamente infrecuente. Se sospecha que es el resultado de fallos en el desarrollo del núcleo facial y/o del nervio craneal y hasta la fecha se ha descrito en menos de 10 familias. Se manifiesta como parálisis facial no progresiva, aislada, uni- o bilateral, simétrica o asimétrica. La afectación de las ramas del nervio facial puede ser desigual."},"it":{"name":"Paralisi facciale congenita ereditaria isolata","definition":"La paralisi facciale congenita ereditaria isolata (IHCFP) è una malattia neurologica molto rara, probabilmente secondaria a un'anomalia dello sviluppo del nucleo facciale e/o del nervo cranico. È stata descritta in meno di dieci famiglie. La malattia esordisce sotto forma di paralisi facciale isolata mono- o bilaterale, non progressiva. I diversi rami del nervo facciale possono essere diversamente interessati."},"nl":{"name":"Geïsoleerde erfelijke congenitale facialisparalyse","synonyms":["Geïsoleerde erfelijke congenitale aangezichtsverlamming"],"definition":"Geïsoleerde erfelijke congenitale facialisparalyse (IHCFP) is een uiterst zeldzame neurologische stoornis die vermoedelijk het gevolg is van een verstoorde ontwikkeling van de facialiskern (nucleus nervi facialis) en/of hersenzenuw, en die tot op heden bij minder dan 10 families werd gerapporteerd. Het manifesteert zich als niet-progressieve, geïsoleerde, unilaterale of bilaterale, symmetrische of asymmetrische verlamming van de aangezichtszenuw (nervus facialis). Betrokkenheid van de takken van de nervus facialis kan ongelijk zijn."},"pt":{"name":"Paralisia facial isolada hereditária congénita"},"pl":{"name":"Izolowany dziedziczny wrodzony paraliż twarzy"},"cs":{"name":"Izolovaná dědičná vrozená faciální paralýza"},"uk":{"name":"Ізольований спадковий вроджений параліч обличчя","definition":"Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal."},"zh":{"name":"孤立性遗传性先天性面瘫","definition":"孤立性遗传性先天性面瘫（IHCFP）是一种极为罕见的神经系统疾病，由面神经核和/或颅神经发育不良引起的，至今仅报道10个以下家系。表现为非进行性、孤立性、单侧或双侧、对称或不对称性面神经麻痹。面神经分支受累程度不等。"},"tr":{"name":"İzole kalıtsal doğumsal yüz paralizi"}},"xrefs":[{"source":"OMIM","code":"601471","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q07.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011090","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518577","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8583","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":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":8.0,"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}