{"orpha":2713,"name":"Oculoosteocutaneous syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2713/","orphanet_url":"https://www.orpha.net/en/disease/detail/2713","names":{"fr":{"name":"Syndrome oculo-ostéo-cutané","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une petite taille et des os métacarpiens et métatarsiens (du 3<sup>e</sup> au 5<sup>e</sup>) particulièrement courts, une anodontie congénitale, des cheveux clairsemés, un trouble de la pigmentation de la peau, une hypoplasie des mamelons et des organes génitaux insuffisamment développés chez la femme, ainsi que par de multiples anomalies oculaires (distichiasis, strabisme, nystagmus, opacités du cristallin et myopie sévère, entre autres). La dysmorphie craniofaciale se traduit par une brachycéphalie, des fentes palpébrales inclinées vers le bas, une racine nasale large, des oreilles d'implantation basse, un petit maxillaire et une mandibule proéminente. Aucun cas n'a été décrit dans la littérature depuis 1968."},"de":{"name":"Okulo-osteo-kutanes Syndrom","synonyms":["Brachymetapodie - Anodontie - Hypotrichose - Albinismus"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch Kleinwuchs und eine besonders ausgeprägte Verkürzung des dritten bis fünften Mittelhandknochens und der Mittelfußknochen, kongenitale Anodontie, spärliche Behaarung, Dyspigmentierung der Haut, hypoplastische Brustwarzen und unterentwickelte äußere Genitalien bei Frauen sowie multiple Augenanomalien (u. a. Distichiasis, Strabismus, Nystagmus, linsenförmige Trübungen und schwere Myopie) gekennzeichnet ist. Zu den dysmorphen kraniofazialen Merkmalen gehören Brachyzephalie, schräg abwärts verlaufende Lidspalten, eine breite Nasenwurzel, tief angesetzte Ohren sowie ein kleiner Oberkiefer und ein hervorstehender Unterkiefer. Seit 1968 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome óculo-osteo-cutáneo","definition":"Es un síndrome dismórfico/ con anomalías congénitas múltiples poco frecuente caracterizado por talla baja y un acortamiento especialmente pronunciado de los metacarpianos y metatarsianos tercero a quinto, anodoncia congénita, cabello escaso, despigmentación de la piel, pezones hipoplásicos y genitales externos infradesarrollados en las mujeres, así como múltiples anomalías oculares (como distiquiasis, estrabismo, nistagmo, opacidades lenticulares y miopía grave, entre otras). Los rasgos craneofaciales dismórficos incluyen braquicefalia, fisuras palpebrales descendentes, raíz nasal ancha, orejas de implantación baja, maxilar pequeño y mandíbula prominente. No ha habido más descripciones en la literatura desde 1968."},"it":{"name":"Sindrome oculo-osteo-cutanea","definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da bassa statura e accorciamento molto marcato del terzo-quinto metacarpo e metatarso, anodontia congenita, capelli radi, anomalie della pigmentazione della cute, ipoplasia dei capezzoli e dei genitali esterni nelle femmine, e anomalie oculari multiple (distichiasi, strabismo, nistagmo, opacità del cristallino e miopia grave). I dismorfismi comprendono la brachicefalia, le rime palpebrali oblique verso il basso, la sella nasale larga, le orecchie a basso impianto, la mascella piccola e la mandibola prominente. Non sono stati descritti nuovi casi dopo il 1968."},"nl":{"name":"Oculo-osteocutaan syndroom","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door kleine gestalte en uitgesproken abnormaal korte lengte van vooral derde tot vijfde metacarpalen en metatarsalen, congenitale anodontie, schaars haar, dispigmentatie van huid, hypoplastische tepels en onderontwikkelde uitwendige geslachtsorganen bij vrouwen, en multipele ooganomalieën (zoals onder meer distichiasis, strabisme, nystagmus, lenstroebelingen, en ernstige myopie). Dysmorfe craniofaciale kenmerken zijn onder meer brachycefalie, schuin naar beneden hellende ooglidspleten, brede neuswortel, laagstaande oren, en kleine maxilla en prominente mandibula. Sinds 1968 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome oculo-osteo-cutânea"},"pl":{"name":"Zespół oczno-kostno-skórny"},"cs":{"name":"Okuloosteokutánní syndrom"},"uk":{"name":"Окулоостеокутанний синдром","definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968."},"zh":{"name":"眼骨皮肤综合征"},"tr":{"name":"Oküloosteokütanoz sendromu"}},"xrefs":[{"source":"OMIM","code":"211370","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2125266189"},{"source":"MONDO","code":"0008884","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565893","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859385","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"992","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":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"4974459[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4974459[PMID]"}],"phenotypes":null}