{"orpha":3355,"name":"Trichoodontoonychial dysplasia","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region"],"definition":"Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3355/","orphanet_url":"https://www.orpha.net/en/disease/detail/3355","names":{"fr":{"name":"Dysplasie tricho-odonto-onychiale","synonyms":["Syndrome de dysplasie tricho-odonto-onychiale-anomalie des os fronto-pariétaux"],"definition":"Un syndrome rare de dysplasie ectodermique caractérisée par une hypotrichose sévère généralisée, une alopécie pariétale, une anodontie secondaire causée par une hypoplasie de l'émail, une onychodystrophie, un déficit osseux dans la région fronto-pariétale et des manifestations cutanées (incluant un nævus pigmenté, des papules, des éphélides, une kératose palmoplantaire, des mamelons surnuméraires, des dermatoglyphes anormaux). Il n'y a pas eu de description ultérieure dans la littérature depuis 1983."},"de":{"name":"Tricho-odonto-onychiale Dysplasie","definition":"Die Tricho-odonto-onychiale Dysplasie ist ein seltenes Ektodermale-Dysplasie-Syndrom und ist gekennzeichnet durch schwere generalisierte Hypotrichose, parietale Alopezie, sekundäre Anodontie infolge Schmelzhypoplasie, Onychodystrophie, Knochenmangel im Frontoparietalbereich und Hautmanifestationen (u.a. Naevus pigmentosus, Papeln, Epheliden, palmoplantare Keratose, supernumeräre Nippel, abnorme Dermatoglyphen). Seit 1983 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Displasia trico-odonto-oniquial","definition":"Es una displasia ectodérmica poco frecuente caracterizada por hipotricosis generalizada grave, alopecia parietal, anodoncia secundaria debida a hipoplasia del esmalte, onicodistrofia, deficiencia ósea en la región frontaloparietal, y manifestaciones cutáneas (incluyendo nevos pigmentados, pápulas, efélides, queratosis palmoplantar, pezones supernumerarios, dermatoglifos anómalos). No ha habido más casos descritos en la literatura desde 1983."},"it":{"name":"Displasia trico-odonto-ungueale","definition":"La displasia trico-odonto-ungueale è una displasia ectodermica rara, caratterizzata da ipotricosi grave generalizzata, alopecia parietale, anodontia secondaria da ipoplasia dello smalto, onicodistrofia, difetto di ossificazione della regione fronto-parietale e segni cutanei (nevo pigmentato, papule, efelidi, cheratosi palmoplantare, capezzoli soprannumerari, anomalie dei dermatoglifi). Non sono stati descritti nuovi casi dopo il 1983."},"nl":{"name":"Tricho-odonto-onychiale dysplasie","synonyms":["Tricho-odonto-onychiale dysplasie met botdeficiëntie in frontopariëtaal gebied"],"definition":"Tricho-odonto-onychiale dysplasie is een zeldzaam ectodermale dysplasiesyndroom dat gekarakteriseerd wordt door ernstige gegeneraliseerde hypotrichose, pariëtale alopecie, secundaire anodontie als gevolg van glazuurhypoplasie, onychodystrofie, botdeficiëntie in de frontopariëtale regio en manifestaties aan de huid (inclusief naevus pigmentosus, papels, efeliden (zomersproeten), palmoplantaire keratose, boventallige tepels, abnormale dermatoglyfen). Sinds 1983 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Displasia trico-odonto-ungueal"},"pl":{"name":"Dysplazja włosowo-zębowo-paznokciowa","synonyms":["Tricho-odonto-onychial dysplasia with bone deficiency in frontoparietal region"]},"cs":{"name":"Trichoodontoonychiální dysplázie","synonyms":["Trichoodontoonychiální dysplázie s kostním deficitem ve frontoparietální oblasti"]},"uk":{"name":"Трихоодонтооніхіальна дисплазія","synonyms":["Триходононіхіальна дисплазія з дефіцитом кісткової тканини в лобно-тімяній ділянці"],"definition":"Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983."},"zh":{"name":"毛发牙齿甲床发育不良","synonyms":["毛发牙齿甲床发育不良伴额顶区骨骼缺陷"]},"tr":{"name":"Trikoodontoonikiyal displazi","synonyms":["Frontopariyetal bölgede kemik eksikliği ile seyreden trikoodontoonikyal displazi"]}},"xrefs":[{"source":"OMIM","code":"275450","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":"2142042007"},{"source":"MONDO","code":"0010153","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564760","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3502453","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5267","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 recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"6859125[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6859125[PMID]"}],"phenotypes":null}