{"orpha":398189,"name":"Focal facial dermal dysplasia type IV","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["FFDD type IV","FFDD4","Focal facial dermal dysplasia 4","Focal facial preauricular dysplasia"],"definition":"Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-398189/","orphanet_url":"https://www.orpha.net/en/disease/detail/398189","names":{"fr":{"name":"Dysplasie dermique faciale focale type IV","synonyms":["Dysplasie dermique faciale focale 4","Dysplasie faciale focale préauriculaire","FFDD type IV","FFDD4"],"definition":"Dysplasie dermique faciale focale rare caractérisée par des lésions isolées d'allure cicatricielle congénitales en région préauriculaire et/ou sur les joues."},"de":{"name":"Fokale faziale dermale Dysplasie Typ IV","synonyms":["FFDD Typ IV","FFDD4","Fokale faziale dermale Dysplasie 4","Fokale faziale präaurikuläre Dysplasie"]},"es":{"name":"Displasia dérmica focal facial tipo IV","synonyms":["Displasia dérmica focal facial 4","Displasia focal facial preauricular","FFDD tipo IV","FFDD4"],"definition":"Es una displasia dérmica facial focal (DDFF) poco frecuente caracterizada por lesiones congénitas aisladas preauriculares y/o ampollas similares a cicatrices en las mejillas."},"it":{"name":"Displasia dermica facciale focale, tipo IV","synonyms":["Displasia dermica facciale focale 4","Displasia facciale focale preauricolare","FFDD, tipo IV","FFDD4"]},"nl":{"name":"Focale faciale dermale dysplasie type IV","synonyms":["FFDD type IV","FFDD4","Focale faciale dermale dysplasie 4","Focale faciale pre-auriculaire dysplasie"],"definition":"Focale faciale dermale dysplasie type IV (FFDD4) is een zeldzame focale faciale dysplasie (FFDD; zie deze term) die wordt gekarakteriseerd door congenitale geïsoleerde pre-auriculaire en/of op de wang gesitueerde littekenachtige letsels."},"pt":{"name":"Displasia dérmica facial focal tipo IV","synonyms":["Displasia dérmica facial focal tipo 4","Displasia facial focal preauricular","FFDD tipo IV","FFDD4"]},"pl":{"name":"Ogniskowa dysplazja skóry twarzy typu IV","synonyms":["FFDD typu IV","FFDD4","Ogniskowa dysplazja skóry twarzy 4","Ogniskowa przeduszna dysplazja skóry twarzy"]},"cs":{"name":"Fokální faciální dermální dysplázie, typ IV","synonyms":["FFDD typ IV","FFDD4","Fokální faciální dermální dysplázie, typ 4","Fokální faciální preaurikulární dysplázie"]},"uk":{"name":"Фокальна дисплазія шкіри обличчя, тип IV","synonyms":["FFDD тип IV","FFDD4","Фокальна дисплазія шкіри обличчя 4","Фокальна лицьова преаурикулярна дисплазія"],"definition":"Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions."},"zh":{"name":"局灶性面部皮肤发育异常4型","synonyms":["局灶性面部耳前真皮发育不良"],"definition":"局灶性面部真皮发育不良IV型(FFDD4)是一种罕见的局灶性面部真皮发育不良(FFDD；见此术语)，其特征是先天性孤立的耳前和/或面颊水泡疤痕样病变。"},"tr":{"name":"Fokal yüz dermal displazi tip IV","synonyms":["FFDD4","FFDD tip IV","Fokal fasiyal dermal displazi 4","Fokal fasiyal preoriküler displazi"]}},"xrefs":[{"source":"OMIM","code":"614974","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,"icd11_uri":"null"},{"source":"MONDO","code":"0013997","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3554246","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":398166,"name":"Focal facial dermal dysplasia","classifications":[147,156,187]}],"children":[],"genes":[{"symbol":"CYP26C1","name":"cytochrome P450 family 26 subfamily C member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23161670[PMID]","hgnc":"20577","ensembl":"ENSG00000187553","omim":"608428","loci":["10q23.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"23161670[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23161670[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-19","source":"16530710[PMID]_23161670[PMID]","terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:3000019","label":"Abnormality of buccal mucosa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004426","label":"Abnormality of the cheek","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100494","label":"Abnormal mast cell morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011124","label":"Abnormality of epidermal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025167","label":"Fragmented elastic fibers in the dermis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003764","label":"Nevus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100699","label":"Scarring","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","frequency":"Frequent (79-30%)","criteria":null}]}}