{"orpha":79495,"name":"X-linked congenital generalized hypertrichosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Congenital generalized hypertrichosis, Macias-Flores type","Macias Flores-Garcia Cruz-Rivera syndrome"],"definition":"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79495/","orphanet_url":"https://www.orpha.net/en/disease/detail/79495","names":{"fr":{"name":"Hypertrichose congénitale généralisée liée à l'X","synonyms":["Hypertrichose congénitale généralisée type Macias-Flores"],"definition":"Type extrêmement rare d'hypertrichose congénitale lanugineuse, une maladie cutanée congénitale caractérisée par une pilosité excessive affectant l'ensemble du corps chez les hommes et par une pilosité excessive légère et asymétrique chez les femmes. Elle est associée à une légère dysmorphie faciale (narines antéversées, prognathisme modéré) et, dans une famille, l'association avec des anomalies dentaires et une surdité a également été observée."},"de":{"name":"Hypertrichose, generalisierte kongenitale, X-chromosomale","synonyms":["Hypertrichose, generalisierte kongenitale, Typ Macias-Flores","Macias Flores-Garcia Cruz-Rivera-Syndrom"],"definition":"Die X-chromosomale kongenitale generalisierte Hypertrichose ist ein extrem seltener Typ der Hypertrichosis lanuginosa congenita, einer angeborenen Hautkrankheit. Sie ist durch übermäßige Behaarung des ganzen Körpers bei männlichen Patienten und durch mäßig und asymmetrisch verstärkten Haarwuchs bei weiblichen Patienten gekennzeichnet. Assoziiert sind leichte faziale Dysmorphien (antevertierte Nasenlöcher, moderate Progenie) und, in 1 Familie, Zahnanomalien und Schwerhörigkeit."},"es":{"name":"Hipertricosis congénita generalizada ligada al cromosoma X","synonyms":["Hipertricosis congénita generalizada tipo Macias-Flores","Síndrome de Macias Flores-Garcia Cruz-Rivera"],"definition":"La hipertricosis generalizada congénita ligada al X es un tipo extremadamente poco frecuente de hipertricosis lanuginosa congénita, una enfermedad congénita de la piel, que se caracteriza por un sobrecrecimiento del pelo de todo el cuerpo en varones, y por un sobrecrecimiento del pelo moderado y asimétrico en mujeres. Está asociada con un dismorfismo facial leve (fosas nasales en anteversión, prognatismo moderado) y, en una familia, también estaba asociado con anomalías dentales y sordera."},"it":{"name":"Ipertricosi generalizzata congenita legata all'X","synonyms":["Ipertricosi generalizzata congenita, tipo Macias-Flores","Sindrome di Macias Flores-Garcia Cruz-Rivera"],"definition":"L'ipertricosi generalizzata congenita legata all'X è una forma estremamente rara di ipertricosi lanuginosa congenita, una malattia congenita della cute, caratterizzata da un eccesso di peli su tutto il corpo nei maschi e dalla presenza in eccesso e in forma asimmetrica dei peli nelle femmine. Si associa a lievi dismorfismi facciali (narici anterverse, prognatismo moderato) e, limitatamente ad una famiglia, ad anomalie dei denti e alla sordità."},"nl":{"name":"X-gebonden congenitale gegeneraliseerde hypertrichose","synonyms":["Congenitale gegeneraliseerde hypertrichose, Macias-Flores-type","Syndroom van Macias Flores-Garcia Cruz-Rivera"],"definition":"Een uiterst zeldzaam type van hypertrichosis lanuginosa congenita, een congenitale huidziekte, gekenmerkt door overmatige groei van haar over het gehele lichaam bij mannen, en milde en asymmetrische overgroei van haar bij vrouwen. Het is geassocieerd met milde faciale dysmorfie (anteversie van neusgaten, matige prognathie), en bij één familie ook met dentale anomalieën en doofheid."},"pt":{"name":"Síndrome de Macias Flores-Garcia Cruz-Rivera"},"pl":{"name":"Wrodzona uogólniona hipertrichoza sprzężona z chromosomem X","synonyms":["Wrodzona uogólniona hipertrichoza, typ Macias i Flores","Zespół Macias Flores, Garcia Cruz i Rivera"]},"cs":{"name":"X-vázaná vrozená generalizovaná hypertrichóza","synonyms":["Vrozená generalizovaná hypertrichóza, Macias Floresův typ","Macias Floresův-Garcia Cruzův-Riverův syndrom","Macias Flores-Garcia Cruz-Riverův syndrom"]},"uk":{"name":"Х-зчеплений вроджений генералізований гіпертрихоз","synonyms":["Вроджений генералізований гіпертрихоз, тип Масіаса-Флореса","Синдром Масіаса Флореса-Гарсія Круза-Рівери"],"definition":"X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness."},"zh":{"name":"X连锁先天性全身型多毛症","synonyms":["先天性全身多毛症， Macias-Flores型"]},"tr":{"name":"X'e bağlı doğumsal jeneralize hipertrikoz","synonyms":["Macias Flores-Garcia Cruz-Rivera sendromu","Doğumsal jeneralize hipertrikoz, Macias-Flores tipi"]}},"xrefs":[{"source":"OMIM","code":"307150","qualifier":"E","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":"633463315"},{"source":"MONDO","code":"0010614","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538388","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855900","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2863","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":2222,"name":"Hypertrichosis lanuginosa congenita","classifications":[147,156,187]}],"children":[],"genes":[{"symbol":"SOX3","name":"SRY-box transcription factor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21636067[PMID]","hgnc":"11199","ensembl":"ENSG00000134595","omim":"313430","loci":["Xq27.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":[],"prevalence":[],"phenotypes":null}