{"orpha":1807,"name":"Focal facial dermal dysplasia type III","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["FFDD type III","FFDD3","Focal facial dermal dysplasia 3, Setleis type","Setleis syndrome"],"definition":"Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1807/","orphanet_url":"https://www.orpha.net/en/disease/detail/1807","names":{"fr":{"name":"Dysplasie dermique faciale focale type III","synonyms":["Dysplasie dermique faciale focale 3, type Setleis","FFDD type III","FFDD3","Syndrome de Setleis"],"definition":"Dysplasie dermique faciale focale rare caractérisée principalement par des dépressions d'allure cicatricielle bitemporales congénitales et une dysmorphie faciale typique, mais variable, qui peut inclure un distichiasis (paupières supérieures) ou une absence de cils, des sourcils inclinés et une pointe nasale aplatie et/ou bulbeuse, ainsi que d'autres manifestations telles qu'une implantation frontale basse des cheveux, des cheveux clairsemés, une peau redondante, un épicanthus, des oreilles dysplasiques d'implantation basse, une blépharite et une conjonctivite."},"de":{"name":"Dysplasie, dermale faziale fokale, Typ III","synonyms":["FFDD Typ III","FFDD3","Fokale faziale dermale Dysplasie 3 Typ Setleis","Setleis-Syndrom"]},"es":{"name":"Displasia dérmica focal facial tipo III","synonyms":["Displasia dérmica facial focal 3 tipo Setleis","Displasia dérmica focal facial 3 tipo Setleis","FFDD tipo III","FFDD3","Síndrome de Setleis"],"definition":"Es una displasia dérmica focal facial (DDFF) poco frecuente caracterizada principalmente por depresiones congénitas bitemporales similares a cicatrices y dismorfia facial típica, pero variable, que puede incluir distiquiasis (párpados superiores) o ausencia de pestañas, cejas oblicuas y punta nasal aplanada y/o bulbosa, así como otras características como línea frontal de implantación del cabello baja, cabello escaso, piel redundante, pliegues epicánticos, orejas displásicas de implantación baja, blefaritis y conjuntivitis."},"it":{"name":"Displasia dermica facciale focale, tipo III","synonyms":["Displasia dermica facciale focale 3, tipo Setleis","FFDD, tipo III","FFDD3","Sindrome di Setleis"]},"nl":{"name":"Focale faciale dermale dysplasie type III","synonyms":["FFDD type III","FFDD3","Focale faciale dermale dysplasie 3, Setleis-type","Setleissyndroom"],"definition":"Focale faciale dermale dysplasie type III (FFDD3) is een zeldzame focale faciale dysplasie (FFDD; zie deze term) die vooral wordt gekarakteriseerd door congenitale bitemporale littekenachtige indrukkingen en een typische maar variabele dysmorfie van het gelaat dat distichiasis (bovenste oogleden) of ontbrekende wimpers kan omvatten, alsook hellende wenkbrauwen en een afgeplatte en/of bolvormige neustip, en andere kenmerken zoals een lage voorste haarlijn, schaars haar, overtollige huid, amandelogen, laagstaande dysplastische oren, blefaritis en conjunctivitis."},"pt":{"name":"Displasia dérmica focal facial tipo III","synonyms":["Displasia dérmica facial focal 3, tipo Setleis","FFDD tipo III","FFDD3","Síndrome Setleis"]},"pl":{"name":"Ogniskowa dysplazja skóry twarzy typu III","synonyms":["FFDD type III","FFDD3","Ogniskowa dysplazja skóry twarzy 3, typ Setleisa","Zespół Setleisa"]},"cs":{"name":"Fokální faciální dermální dysplázie, typ III","synonyms":["FFDD typ III","FFDD3","Fokální faciální dermální dysplázie 3, Setleisův typ","Setleisův syndrom"]},"uk":{"name":"Фокапльна дисплазія шкіри обличчя, тип III","synonyms":["FFDD тип III","FFDD3","Фокальна дисплазія дерми обличчя 3, тип Сетлейса","Синдром Сетлейса"],"definition":"Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial dermal dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis."},"zh":{"name":"局灶性面部皮肤发育不良III型","synonyms":["局灶性面部皮肤发育不良III型，Setleits型"]},"tr":{"name":"Fokal yüz dermal displazi tip III","synonyms":["FFDD3","FFDD tip III","Setleis sendromu","Fokal fasiyal dermal displazi 3, Setleis tipi"]}},"xrefs":[{"source":"OMIM","code":"227260","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":"0009203","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536385","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1744559","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"121","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":"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"21931173[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100781","label":"Abnormality of the sacroiliac joint","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010751","label":"Chin dimple","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010935","label":"Abnormality of the upper urinary tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009743","label":"Distichiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005338","label":"Sparse lateral eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007776","label":"Sparse lower eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000632","label":"Lacrimation abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}