{"orpha":1818,"name":"Ectodermal dysplasia, trichoodontoonychial type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1818/","orphanet_url":"https://www.orpha.net/en/disease/detail/1818","names":{"fr":{"name":"Dysplasie ectodermique tricho-odonto-onychiale","definition":"La dysplasie ectodermique tricho-odonto-onychiale est une forme de dysplasie ectodermique avec une atteinte des cheveux, des dents et des ongles, caractérisée surtout par une hypodontie, une hypotrichose, un retard de la pousse des cheveux et des ongles cassants. Une hypoplasie focale dermique, une hyperpigmentation irrégulière, des mamelons hypoplasiques ou absents, une amastie, une atteinte auditive, une translocation congénitale de la hanche et un asthme ont aussi été associés. Il n'y a pas eu de description ultérieure de la maladie dans la littérature depuis 1996."},"de":{"name":"Dysplasie, ektodermale, tricho-odonto-onychaler Typ"},"es":{"name":"Displasia ectodérmica tipo trico-odonto-oniquial","definition":"La displasia ectodérmica tipo trico-odonto-oniquial es una forma de displasia ectodérmica con afectación del cabello, dientes y uñas caracterizada predominantemente por hipodoncia, hipotricosis, crecimiento tardío del cabello y uñas quebradizas. Además, se ha asociado con hipoplasia dérmica focal, hiperpigmentación irregular, pezones hipoplásicos o ausentes, amastia, discapacidad auditiva, luxación congénita de cadera y asma. No ha habido más descripciones en la literatura desde 1996."},"it":{"name":"Displasia ectodermica, tipo onico-trico-dentale","definition":"La displasia ectodermica, tipo onico-trico-dentale, è una displasia che interessa i capelli e l'apparto pilifero, i denti e le unghie; è caratterizzata prevalentemente da ipodontia, ipotricosi, ritardo della crescita dei peli e dei capelli e unghie fragili. Possono associarsi ipoplasia focale del derma, iperpigmentazione irregolare, ipoplasia/agenesia dei capezzoli, amastia, sordità, lussazione congenita dell'anca e asma. Non sono stati descritti nuovi casi dopo il 1996."},"nl":{"name":"Ectodermale dysplasie, tricho-odonto-onychiaal type","definition":"Ectodermale dysplasie, tricho-odonto-onychiaal type is een vorm van ectodermale dysplasie met betrokkenheid van het haar, de tanden en de nagels, die voornamelijk gekarakteriseerd wordt door hypodontie, hypotrichose, vertraagde haargroei en broze nagels. Bijkomend werden ook reeds focale dermale dysplasie, onregelmatige hyperpigmentatie, hypoplastische of afwezige tepels, amastie, gehoorstoornis, congenitale dislocatie van de heup en astma geassocieerd. Sinds 1996 zijn er geen verdere beschrijvingen te vinden in de literatuur."},"pt":{"name":"Displasia ectodérmica, tipo trico-odonto-ungueal"},"pl":{"name":"Dysplazja ektodermalna typu włosowo-zębowo- paznokciowego"},"cs":{"name":"Ektodermální dysplázie, trichoodontoonychiální typ"},"uk":{"name":"Ектодермальна дисплазія, трихоодонтооніхіальний тип","definition":"Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996."},"zh":{"name":"外胚层发育不良，毛发牙齿型"},"tr":{"name":"Ektodermal displazi, trishoodontokonşiyal tip"}},"xrefs":[{"source":"OMIM","code":"129510","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":"700661574"},{"source":"MONDO","code":"0007511","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565068","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1851858","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2055","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":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"3740884[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3740884[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000366","label":"Abnormality of the nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007521","label":"Irregular hyperpigmentation of back","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100578","label":"Lipoatrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006709","label":"Aplasia/Hypoplasia of the nipples","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Frequent (79-30%)","criteria":null}]}}