{"orpha":398173,"name":"Focal facial dermal dysplasia type II","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["FFDD type II","FFDD2","Focal facial dermal dysplasia 2, Brauer-Setleis type"],"definition":"Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-398173/","orphanet_url":"https://www.orpha.net/en/disease/detail/398173","names":{"fr":{"name":"Dysplasie dermique faciale focale type II","synonyms":["Dysplasie dermique faciale focale 2, type Braun-Setleis","FFDD type II","FFDD2"],"definition":"Dysplasie dermique faciale focale caractérisée par des dépressions d'allure cicatricielle bitemporales congénitales, ainsi que par d'autres anomalies du visage et des organes."},"de":{"name":"Fokale faziale dermale Dysplasie Typ II","synonyms":["FFDD Typ II","FFDD2","Fokale faziale dermale Dysplasie 2, Typ Brauer-Setleis"]},"es":{"name":"Displasia dérmica focal facial tipo II","synonyms":["Displasia dérmica facial focal 2, tipo Brauer-Setleis","Displasia dérmica focal facial 2 tipo Brauer-Setleis","FFDD tipo II","FFDD2"],"definition":"Es una displasia dérmica facial focal (DDFF), caracterizada por depresiones congénitas bitemporales similares a cicatrices y otras anomalías faciales y orgánicas."},"it":{"name":"Displasia dermica facciale focale, tipo II","synonyms":["Displasia dermica facciale focale 2, tipo Brauer-Setleis","FFDD, tipo II","FFDD2"]},"nl":{"name":"Focale faciale dermale dysplasie type II","synonyms":["FFDD type II","FFDD2","Focale faciale dermale dysplasie 2, Brauer-Setleis-type"],"definition":"Focale faciale dermale dysplasie type II (FFDD2) is een focale faciale dermale dysplasie (FFDD; zie deze term) die wordt gekarakteriseerd door congenitale bitemporale littekenachtige depressies en andere afwijkingen aan het gelaat en aan organen."},"pt":{"name":"Displasia dérmica facial focal tipo II","synonyms":["Displasia dérmica facial focal 2, tipo Brauer-Setleis","Displasia dérmica facial focal tipo 2","FFDD tipo II","FFDD2"]},"pl":{"name":"Ogniskowa dysplazja skóry twarzy typu II","synonyms":["FFDD typu II","FFDD2","Ogniskowa dysplazja skóry twarzy 2, typ Brauera i Setleisa"]},"cs":{"name":"Fokální faciální dermální dysplázie, typ II","synonyms":["FFDD typ II","FFDD2","Fokální faciální dermální dysplázie 2, Brauerův-Setleisův typ","Fokální faciální dermální dysplázie 2, Brauer-Setleisův typ"]},"uk":{"name":"Фокальна дисплазія шкіри обличчя, тип II","synonyms":["FFDD тип II","FFDD2","Фокальна дисплазія шкіри обличчя 2, тип Брауера-Сетлейса"],"definition":"Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD; see this term), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities."},"zh":{"name":"局灶性面部皮肤发育异常2型","synonyms":["局灶性面部真皮发育异常2型Brauer-Setleis type型"],"definition":"局灶性面部真皮发育不良II型(FFDD2)是一种局灶性面部真皮发育不良(FFDD)，以先天性双颞瘢痕样凹陷和其他面部和器官异常为特征。"},"tr":{"name":"Fokal yüz dermal displazi tip II","synonyms":["FFDD2","FFDD tip II","Fokal fasiyal dermal displazi 2, Brauer-Setleis tipi"]}},"xrefs":[{"source":"OMIM","code":"614973","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":"0013996","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3554245","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":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"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_21931173[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-03-28","source":"19291768[PMID]","terms":[{"hpo":"HP:0011336","label":"Bitemporal forceps marks","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002055","label":"Curved linear dimple below the lower lip","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0009743","label":"Distichiasis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001128","label":"Trichiasis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007651","label":"Ectropion of lower eyelids","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004554","label":"Generalized hypertrichosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000385","label":"Small earlobe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000387","label":"Absent earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000394","label":"Lop ear","frequency":"Occasional (29-5%)","criteria":null}]}}