{"orpha":2718,"name":"Oculotrichodysplasia","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Cecato de Lima-Pinheiro syndrome"],"definition":"A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2718/","orphanet_url":"https://www.orpha.net/en/disease/detail/2718","names":{"fr":{"name":"Oculo-tricho-dysplasie","synonyms":["Syndrome de Cecato de Lima-Pinheiro"],"definition":"Syndrome de dysplasie ectodermique rare caractérisé par une rétinite pigmentaire bilatérale, une trichodysplasie (hypotrichose généralisée, modifications structurelles), des anomalies dentaires, une onychodysplasie et une peau sèche et squameuse. Aucun cas n'a été décrit dans la littérature depuis 1988."},"de":{"name":"Okulo-tricho-Dysplasie","synonyms":["Cecato-de-Lima-Pinheiro-Syndrom"],"definition":"Ein seltenes Ektodermale-Dysplasie-Syndrom, das durch bilaterale Retinitis pigmentosa, Trichodysplasie (generalisierte Hypotrichose, strukturelle Veränderungen), Zahnanomalien, Onychodysplasie und trockene und schuppige Haut gekennzeichnet ist. Seit 1988 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Oculotricodisplasia","synonyms":["Síndrome de Cecato de Lima-Pinheiro"],"definition":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por retinosis pigmentaria bilateral, tricodisplasia (hipotricosis generalizada, cambios estructurales), anomalías dentales, onicodisplasia y piel seca y escamosa. No ha habido más descripciones en la literatura desde 1988."},"it":{"name":"Oculo-trico-displasia","synonyms":["Sindrome di Cecato de Lima-Pinheiro"],"definition":"Si tratta di una displasia ectodermica rara, caratterizzata da retinite pigmentosa bilaterale, tricodisplasia (ipotricosi generalizzata, alterazioni strutturali), anomalie dei denti, onicodisplasia e cute secca e desquamata. Non sono stati descritti nuovi casi dopo il 1988."},"nl":{"name":"Oculotrichodysplasie","synonyms":["Syndroom van Cecato de Lima-Pinheiro"],"definition":"Een zeldzaam syndroom van ectodermale dysplasie, gekenmerkt door bilaterale retinitis pigmentosa, trichodysplasie (gegeneraliseerde hypotrichose, structurele veranderingen), dentale anomalieën, onychodysplasie, en droge en schilferige huid. Sinds 1988 verschenen er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Oculo-tricodisplasia","synonyms":["Síndrome Cecato de Lima-Pinheiro"]},"pl":{"name":"Dysplazja oczno-włosowa","synonyms":["Zespół Cecato de Lima i Pinheiro"]},"cs":{"name":"Okulotrichodysplázie","synonyms":["Cecatto de Limaové-Pinheirové syndrom","Cecatto de Lima-Pinheirové syndrom"]},"uk":{"name":"Окулотриходисплазія","synonyms":["Синдром Секато де Ліма-Пінхейро"],"definition":"A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988."},"zh":{"name":"眼毛发发育不良","synonyms":["Cecato de Lima-Pinheiro综合征"]},"tr":{"name":"Okülotrikodisplazi","synonyms":["Cecato de Lima-Pinheiro sendromu"]}},"xrefs":[{"source":"OMIM","code":"257960","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1202969811"},{"source":"MONDO","code":"0009771","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564934","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850332","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":716393,"name":"Rare disorder with non-progressive generalized retinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3398012[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3398012[PMID]"}],"phenotypes":null}