{"orpha":398166,"name":"Focal facial dermal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["FFDD"],"definition":"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-398166/","orphanet_url":"https://www.orpha.net/en/disease/detail/398166","names":{"fr":{"name":"Dysplasie dermique faciale focale","synonyms":["FFDD"],"definition":"Dysplasie ectodermique rare caractérisée par des lésions congénitales bitemporales (ressemblant à des marques de forceps) ou préauriculaires d'allure cicatricielle, associées à d'autres manifestations faciales et/ou systématiques. Quatre types de dysplasie dermique faciale focale sont décrits. Les types&nbsp;II et III se manifestent par une dysmorphie faciale variable, notamment par un distichiasis (cils supérieurs) ou une absence de cils, des sourcils latéraux très fins et inclinés vers le haut, un pont nasal aplati et une lèvre supérieure charnue. Les types&nbsp;I et IV sont rarement associés à des anomalies extra-cutanées."},"de":{"name":"Fokale faziale dermale Dysplasie","synonyms":["FFDD"]},"es":{"name":"Displasia dérmica facial focal","synonyms":["FFDD"],"definition":"Las displasias dérmicas faciales focales (FFDD, por sus siglas en inglés) son displasias ectodérmicas poco frecuentes caracterizadas por lesiones bitemporales congénitas (que se asemejan a marcas de fórceps) o lesiones preauriculares similares a cicatrices asociadas con manifestaciones faciales o sistémicas adicionales. Se han descrito 4 tipos de FFDD (FFDD I a IV). Los tipos II y III de FFDD se manifiestan como dismorfia facial variable que incluye distiquiasis (pestañas superiores) o ausencia de pestañas, y cejas laterales ascendentes y adelgazadas con un puente nasal aplanado y el labio superior lleno. Los tipos I y IV de FFDD se asocian excepcionalmente a anomalías extracutáneas."},"it":{"name":"Displasia dermica facciale focale","synonyms":["FFDD"]},"nl":{"name":"Focale faciale dermale dysplasie","synonyms":["FFDD"],"definition":"Focale faciale dermale dysplasieën (FFDD) zijn zeldzame ectodermale dysplasieën die worden gekarakteriseerd door congenitale bitemporale (lijkend op de afdrukken van een pincet) of pre-auriculaire littekenachtige letsels geassocieerd met bijkomende faciale en/of systemische manifestaties; er werden 4 types FFDD beschreven (FFDD I tot IV; zie deze termen). FFDD types II en III vertonen een variabele gelaatsdysmorfie met onder meer distichiasis (bovenste wimpers) of ontbrekende wimpers, en naar boven oplopende en uitgedunde laterale wenkbrauwen met een platte neusbrug en volle bovenlip. FFDD types I en IV zijn zelden geassocieerd met extracutane afwijkingen."},"pt":{"name":"Displasia dérmica facial focal","synonyms":["FFDD"]},"pl":{"name":"Ogniskowa dysplazja skóry twarzy","synonyms":["FFDD"]},"cs":{"name":"Fokální faciální dermální dysplázie","synonyms":["FFDD"]},"uk":{"name":"Фокальна дисплазія шкіри обличчя","synonyms":["FFDD"],"definition":"Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV; see these terms). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies."},"zh":{"name":"局灶性面部皮肤发育异常","synonyms":["FFDD"],"definition":"局灶性面部真皮发育不良(FFDD)是一种罕见的外胚层发育不良，以先天性双颞(类似钳痕)或耳前瘢痕样病变为特征，并伴有面部和/或全身表现。本病共有4种亚型(FFDD I至IV；参见这些术语)。FFDD II和III型表现为可变的面部畸形，包括双行睫(上睫毛)或缺少睫毛，侧眉向上倾斜和变薄，鼻梁扁平，上唇丰满。FFDD I型和IV型很少与皮肤外异常相关。"},"tr":{"name":"Fokal yüz dermal displazisi","synonyms":["FFDD"]}},"xrefs":[{"source":"OMIM","code":"136500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"227260","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614973","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614974","qualifier":"BTNT","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":"index","validated":true,"icd11_uri":"1200544726"},{"source":"MONDO","code":"0018363","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000090303","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2936827","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8416","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]}],"children":[{"orpha":79133,"name":"Focal facial dermal dysplasia type I","type":"Clinical subtype"},{"orpha":398173,"name":"Focal facial dermal dysplasia type II","type":"Clinical subtype"},{"orpha":1807,"name":"Focal facial dermal dysplasia type III","type":"Clinical subtype"},{"orpha":398189,"name":"Focal facial dermal dysplasia type IV","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":398189,"name":"Focal facial dermal dysplasia type IV"}},{"symbol":"TWIST2","name":"twist family bHLH transcription factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"20670","ensembl":"ENSG00000233608","omim":"607556","loci":["2q37.3"],"via":{"orpha":1807,"name":"Focal facial dermal dysplasia type III"}}],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":147.0,"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":null}