{"orpha":1023,"name":"Congenital generalized hypertrichosis, Ambras type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Ambras syndrome"],"definition":"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1023/","orphanet_url":"https://www.orpha.net/en/disease/detail/1023","names":{"fr":{"name":"Hypertrichose congénitale généralisée type Ambras","synonyms":["Syndrome d'Ambras"],"definition":"Forme extrêmement rare d'hypertrichose congénitale lanugineuse, une maladie cutanée congénitale caractérisée par la présence de poils duveteux sur tout le corps, en particulier sur le visage, les oreilles et les épaules, à l'exception des paumes, des plantes des pieds et des muqueuses. Une dysmorphie faciale et des anomalies dentaires peuvent également être observées, à savoir un visage triangulaire et grossier, une pointe nasale bulbeuse, de longues fentes palpébrales, un retard dans l'éruption dentaire et l'absence de dents."},"de":{"name":"Kongenitale generalisierte Hypertrichose Typ Ambras","synonyms":["Ambras-Syndrom","Hypertrichosis universalis congenita, Typ Ambras"],"definition":"Die Kongenitale generalisierte Hypertrichose Typ Ambras ist ein extrem seltener Typ der Hypertrichosis lanuginosa congenita, einer angeborenen Hautkrankheit. Sie ist gekennzeichnet durch Flaumhaar am ganzen Körper, besonders im Gesicht, an den Ohren und Schultern, außer an den Handflächen und Fußsohlen und Schleimhäuten. Mögliche assoziierte Anomalien sind dreieckiges, vergröbertes Gesicht, kolbige Nasenspitze, lange Lidspalten, verzögerter Zahndurchbruch und fehlende Zähne."},"es":{"name":"Hipertricosis congénita generalizada tipo Ambras","synonyms":["Síndrome de Ambras"],"definition":"La hipertricosis generalizada congénita tipo Ambras es un tipo extremadamente poco frecuente de hipertricosis lanuginosa congénita, una enfermedad congénita de la piel, que se caracteriza por la presencia de pelo tipo vello en todo el cuerpo, especialmente en cara, orejas y hombros, con excepción de palmas, plantas de los pies y membranas mucosas. También pueden observarse anomalías faciales y dentales, como cara triangular y gruesa, punta nasal bulbosa, fisuras palpebrales largas, retraso en la erupción dental y ausencia de dientes."},"it":{"name":"Ipertricosi generalizzata congenita, tipo Ambras","synonyms":["Sindrome di Ambras"]},"nl":{"name":"Congenitale gegeneraliseerde hypertrichose, Ambras-type","synonyms":["Syndroom van Ambras"],"definition":"Een uiterst zeldzaam type van hypertrichosis lanuginosa congenita, een congenitale huidziekte, gekenmerkt door de aanwezigheid van vellushaar op het gehele lichaam, vooral aangezicht, oren en schouders, met uitzondering van handpalmen, voetzolen, en slijmvlies. Faciale en dentale anomalieën kunnen ook waargenomen worden, zoals driehoekig en ruw gelaat, knolvormige neus, lange ooglidspleten, vertraagde tanderuptie, en afwezigheid van tanden."},"pt":{"name":"Hipertricose generalizada congénita, tipo Ambras","synonyms":["Síndrome Ambras"],"definition":"A hipertricose generalizada congénita, tipo Ambras, é uma forma extremamente rara de hipertricose lanuginosa congénita, uma doença congénita da pele, caracterizada pela presença de pelos finos e rápidos em todo o corpo, especialmente na face, orelhas e ombros, com exceção das palmas das mãos, plantas dos pés e mucosas. Podem também ser observadas anomalias faciais e dentárias, como face triangular e grosseira, ponta nasal bulbosa, fendas palpebrais longas, erupção dentária tardia e ausência de dentes."},"pl":{"name":"Wrodzona uogólniona hipertrichoza typu Ambrasa","synonyms":["Zespół Ambrasa"]},"cs":{"name":"Vrozená generalizovaná hypertrichóza, Ambrasův typ","synonyms":["Ambrasův syndrom"]},"uk":{"name":"Вроджений генералізований гіпертрихоз, тип Амбрас","synonyms":["Синдром Амбраса"],"definition":"Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth."},"zh":{"name":"先天性全身性多毛，Ambras型","synonyms":["Ambras综合征"]},"tr":{"name":"Doğumsal jeneralize hipertrikoz, Ambras tipi","synonyms":["Ambras sendromu"]}},"xrefs":[{"source":"OMIM","code":"145701","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":"680695282"},{"source":"MONDO","code":"0007787","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536605","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1840362","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8206","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":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"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}