{"orpha":69082,"name":"Odonto-tricho-ungual-digito-palmar syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type","OTUDP syndrome"],"definition":"A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69082/","orphanet_url":"https://www.orpha.net/en/disease/detail/69082","names":{"fr":{"name":"Syndrome odonto-tricho-unguéo-digito-palmaire","synonyms":["Syndrome OTUDP","Syndrome odonto-tricho-unguéo-digito-palmaire de Mendoza-Valiente"],"definition":"Syndrome de dysplasie ectodermique rare caractérisé par la présence de dents à la naissance, ainsi que par une trichodystrophie (avec des cheveux fragiles et décolorés, ressemblant à de la paille) et des malformations des mains et des pieds à type de mains simiesques avec plis palmaires transverses et plis interdigitaux proéminents, brachydactylie et des premiers métacarpiens et métatarsiens nettement raccourcis accompagnés d'une hypoplasie des phalanges distales. Aucun cas n'a été décrit dans la littérature depuis 1997."},"de":{"name":"Odonto-tricho-ungual-digito-palmares Syndrom","synonyms":["OTUDP-Syndrom","Odonto-tricho-ungual-digito-palmares Syndrom Typ Mendoza-Valiente"],"definition":"Ein seltenes Syndrom aus der Gruppe der ektodermalen Dysplasien, das charakterisiert ist durch neonatale Zähne, Trichodystrophie, Onychodystrophie sowie Hand- und Fußfehlbildungen (simianartige Hände mit transversalen Palmarfalten und prominenten Interdigitalfalten, Brachydaktylie und ausgeprägter Verkürzung der ersten Metacarpal- und Metatarsalknochen mit Hypoplasie der distalen Phalangen). Seit 1997 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome odonto-trico-ónico-dígito-palmar","synonyms":["Síndrome OTUDP","Síndrome odonto-trico-ónico-dígito-palmar tipo Mendoza-Valiente"],"definition":"Es una displasia ectodérmica sindrómica poco frecuente caracterizada por dientes congénitos, tricodistrofia (pelo pajizo, descolorido y frágil), onicodistrofia y malformaciones de las manos y los pies, consistentes en manos simiescas con pliegues palmares transversales y pliegues interdigitales prominentes, braquidactilia y un marcado acortamiento de los primeros huesos metacarpianos y metatarsianos con hipoplasia de las falanges distales. No ha habido más casos descritos en la literatura desde 1997."},"it":{"name":"Sindrome odonto-trico-ungueale-digito-palmare","synonyms":["Sindrome OTUDP","Sindrome odonto-trico-ungueale-digito-palmare, tipo Mendoza-Valiente"],"definition":"Si tratta di una displasia ectodermica rara, caratterizzata da denti neonatali, tricodistrofia (capelli chiari e fragili, che ricordano la paglia), onicodistrofia e malformazioni delle mani e dei piedi (mani simil-scimmiesche con pieghe palmari e pliche interdigitali prominenti, brachidattilia, marcato accorciamento delle prime ossa del metacarpo e del metatarso associato a ipoplasia delle falangi distali). Non sono stati descritti nuovi casi dopo il 1997."},"nl":{"name":"Odonto-tricho-unguaal-digito-palmair syndroom","synonyms":["OTUDP-syndroom","Odonto-tricho-unguaal-digito-palmair syndroom, Mendoza-Valiente-type"],"definition":"Een zeldzaam ectodermale dysplasiesyndroom gekarakteriseerd door neonatale tanden, trichodystrofie (met stro-achtig, verkleurd en fragiel haar), onychodystrofie, en malformatie van de handen en voeten bestaande uit handen met één enkele dwarse, doorlopende lijn in de handpalm en prominente interdigitale plooien, brachydactylie, en opmerkelijk korte eerste metacarpalen en metatarsalen met hypoplasie van de distale falangen. Sinds 1997 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome odonto-trico-ungueo-digito-palmar","synonyms":["Síndrome OTUDP","Síndrome odonto-trico-ungueo-digito-palmar tipo Mendoza-Valiente"]},"pl":{"name":"Zespół zębowo-włosowo-paznokciowo-palcowo-dłoniowy","synonyms":["Zespół OTUDP","Zespół zębowo-włosowo-paznokciowo-palcowo-dłoniowy, typ Mendoza i Valiente"]},"cs":{"name":"Odontotrichoungvodigitopalmární syndrom","synonyms":["OTUDP syndrom","Odontotrichoungvodigitopalmární syndrom, Mendozův-Valienteové typ","Odonto-tricho-ungvo-digito-palmární syndrom, Mendoza-Valienteové typ"]},"uk":{"name":"Одонто-трихо-унгвально-дигіто-пальмарний синдром","synonyms":["Синдром одонто-трихо-унгуально-дигіто-пальмарний, тип Мендоса-Вальєнте","Синдром OTUDP"],"definition":"A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997."},"zh":{"name":"牙-毛发-甲-手指-掌综合征","synonyms":["牙-毛发-甲-指（趾）-掌综合征，Mendoza-Valiente型"]},"tr":{"name":"Odonto-triko-ungual-digito-palmar sendromu","synonyms":["OTUDP sendromu","Odonto-triko-ungual-dijito-palmar sendromu, Mendoza-Valiente tipi"]}},"xrefs":[{"source":"OMIM","code":"601957","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":"386386782"},{"source":"MONDO","code":"0011171","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566598","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865998","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":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"9217212[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9217212[PMID]"}],"phenotypes":null}