{"orpha":411788,"name":"Familial isolated trichomegaly","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-411788/","orphanet_url":"https://www.orpha.net/en/disease/detail/411788","names":{"fr":{"name":"Trichomégalie isolée familiale","definition":"Un trouble génétique rare de la pilosité, caractérisé par une phase anagène prolongée des cils, conduisant à une croissance extrême et pouvant induire une irritation de la cornée. Une croissance accrue des poils d'autres régions du visage (sourcils, joues, front) et/ou du corps (torse, bras, jambes) peut être associée."},"de":{"name":"Trichomegalie, isolierte, familiäre Form","definition":"Die familiäre isolierte Trichomegalie ist eine seltene genetische Haaranomalie, die durch eine verlängerte Anagenphase der Wimpernhaare gekennzeichnet ist und zu einem extremen Wimpernwachstum führt, das zu Hornhautreizungen führen kann. Vermehrtes Wachstum von Haaren an anderen Stellen des Gesichts (Augenbrauen, Wangen, Stirn) und/oder des Körpers (Brust, Arme, Beine) kann damit einhergehen."},"es":{"name":"Tricomegalia familiar aislada","definition":"Es una anomalía genética poco frecuente del cabello, caracterizada por una fase anágena prolongada de las pestañas, que conduce a un crecimiento extremado de las pestañas que puede provocar irritación de la córnea. Puede estar asociado un aumento de crecimiento de vello en otras zonas del rostro (cejas, mejillas, frente) y/o del cuerpo (pecho, brazos, piernas)."},"it":{"name":"Tricomegalia isolata familiare","definition":"La tricomegalia isolata familiare è un'anomalia genetica rara dei peli. È caratterizzata dal prolungamento della fase anagen delle ciglia, che esita nella loro crescita smisurata, che può causare irritazione della cornea. Può associarsi ad una crescita anomala dei peli su altre parti del viso (sopracciglia, guance, fronte) e/o del corpo (torace, braccia, gambe)."},"nl":{"name":"Familiale geïsoleerde trichomegalie","definition":"Familiale geïsoleerde trichomegalie is een zeldzame, genetische haaranomalie die gekarakteriseerd wordt door een verlengde anagene fase (groeifase) van de haren van de wimpers, met als gevolg een extreme groei van de wimpers die kan leiden tot irritatie van het hoornvlies. Toegenomen groei van haar op andere delen van het gezicht (wenkbrauwen, wangen, voorhoofd) en/of het lichaam (borst, armen, benen) kan geassocieerd zijn."},"pt":{"name":"Tricomegália familiar isolada"},"pl":{"name":"Rodzinna izolowana trichomegalia"},"cs":{"name":"Familiární izolovaná trichomegalie"},"uk":{"name":"Сімейна ізольована трихомегалія","definition":"Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated."},"zh":{"name":"家族孤立性睫毛粗长症","definition":"家族性单发睫毛粗长症是一种罕见的遗传性毛发异常，其特征是睫毛的毛发生长期延长，导致睫毛生长过长，可能导致角膜刺激。可合并有面部其他部位（眉毛，脸颊，额头）和/或身体（胸部，手臂，腿部）的毛发增多有关。"},"tr":{"name":"Ailesel izole trikomegali"}},"xrefs":[{"source":"OMIM","code":"190330","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1611595637"},{"source":"MONDO","code":"0018472","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706941","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":3362,"name":"OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183450,"name":"Genetic hair anomaly","classifications":[156]},{"orpha":79363,"name":"Hair anomaly","classifications":[187]}],"children":[],"genes":[{"symbol":"FGF5","name":"fibroblast growth factor 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24989505[PMID]","hgnc":"3683","ensembl":"ENSG00000138675","omim":"165190","loci":["4q21.21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24989505[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_ 24989505[PMID]"}],"phenotypes":null}