{"orpha":79133,"name":"Focal facial dermal dysplasia type I","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Bitemporal aplasia cutis congenita","Brauer syndrome","FFDD type I","FFDD1","Focal facial dermal dysplasia 1, Brauer type","Focal facial dermal dysplasia type 1"],"definition":"Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79133/","orphanet_url":"https://www.orpha.net/en/disease/detail/79133","names":{"fr":{"name":"Dysplasie dermique faciale focale type I","synonyms":["Aplasie cutanée bitemporale congénitale","Dysplasie dermique faciale focale 1, type Brauer","FFDD type I","FFDD1","Naevus aplasiques symétriques héréditaires des tempes","Syndrome de Brauer"],"definition":"Dysplasie faciale focale caractérisée par une aplasie cutanée congénitale en région bitemporale."},"de":{"name":"Dysplasie, dermale faziale fokale, Typ I","synonyms":["Aplasia cutis congenita, bitemporale","Brauer-Syndrom","FFDD Typ I","FFDD1","Fokale faziale dermale Dysplasie 1 vom Typ Brauer"]},"es":{"name":"Displasia dérmica focal facial tipo I","synonyms":["Aplasia cutis bitemporal congénita","Displasia dérmica facial focal tipo Brauer","Displasia dérmica focal facial 1 tipo Brauer","Displasia dérmica focal facial tipo 1","FFDD tipo I","FFDD1","Síndrome de Brauer"],"definition":"La displasia dérmica focal facial tipo I (DDFF1), también conocida como síndrome de Brauer, es una displasia facial focal (DDFF) caracterizada por aplasia cutánea bitemporal congénita."},"it":{"name":"Displasia facciale focale del derma, tipo I","synonyms":["Aplasia cutanea congenita bitemporale","Displasia facciale focale del derma 1, tipo Brauer","Displasia facciale focale del derma, tipo 1","FFDD, tipo I","FFDD1","Sindrome di Brauer"]},"nl":{"name":"Focale faciale dermale dysplasie type I","synonyms":["Bitemporale aplasia cutis congenita","Brauersyndroom","FFDD type I","FFDD1","Focale faciale dermale dysplasie 1, Brauer-type","Focale faciale dermale dysplasie type 1"],"definition":"Focale faciale dermale dysplasie type I (FFDD1), ook bekend als Brauersyndroom, is een focale faciale dysplasie (FFDD; zie deze term) die gekenmerkt wordt door aangeboren bitemporale cutis aplasia."},"pt":{"name":"Displasia dérmica focal facial tipo I","synonyms":["Displasia dérmica facial focal 1, tipo Brauer","Displasia dérmica facial focal tipo 1","FFDD tipo I","FFDD1"]},"pl":{"name":"Ogniskowa dysplazja skórna twarzy typu I","synonyms":["FFDD typu I","FFDD1","Ogniskowa dysplazja skórna twarzy 1, typ Brauera","Ogniskowa dysplazja skórna twarzy typu 1","Wrodzona dwuskroniowa aplazja skóry","Zespół Brauera"]},"cs":{"name":"Fokální faciální dermální dysplázie, typ I","synonyms":["FFDD typ I","FFDD1","Fokální faciální dermální dysplázie, typ 1","Vrozená bitemporální aplázie kůže","Brauerův syndrom","Fokální faciální dermální dysplázie, Brauerův typ"]},"uk":{"name":"Фокальна дермальна дисплазія обиччя, тип І","synonyms":["Вроджена бітемпоральна аплазія кукси","Синдром Брауера","FFDD тип I","FFDD1","Фокальна дисплазія шкіри обличчя 1, тип Брауера","Фокальна дисплазія шкіри обличчя, тип 1"],"definition":"Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia."},"zh":{"name":"局灶性面部皮肤发育不良I型","synonyms":["局灶性面部皮肤发育不良，1型brauer型"]},"tr":{"name":"Fokal yüz dermal displazisitip I","synonyms":["FFDD1","FFDD tip I","Brauer sendromu","Bitemporal aplazi kutis konjenita","Fokal fasiyal dermal displazi tip 1","Fokal fasiyal dermal displazi 1, Brauer tipi"]}},"xrefs":[{"source":"OMIM","code":"136500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007627","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5235196","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":398166,"name":"Focal facial dermal dysplasia","classifications":[147,156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":81.0,"area":"Worldwide","status":"Validated","source":"21931173[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000561","label":"Absent eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001057","label":"Aplasia cutis congenita","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001075","label":"Atrophic scars","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009743","label":"Distichiasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010781","label":"Skin dimple","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005585","label":"Spotty hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005590","label":"Spotty hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011221","label":"Vertical forehead creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000437","label":"Depressed nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005338","label":"Sparse lateral eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000215","label":"Thick upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null}]}}