{"orpha":69083,"name":"Ectodermal dysplasia with natal teeth, Turnpenny type","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69083/","orphanet_url":"https://www.orpha.net/en/disease/detail/69083","names":{"fr":{"name":"Syndrome de dysplasie ectodermique-dents de naissance, type Turnpenny","definition":"Syndrome rare de dysplasie ectodermique caractérisé par la présence de dents à la naissance, une hypodontie ou une oligodontie de la seconde dentition, un acanthosis nigricans au niveau des zones de flexion, une pilosité corporelle et des cheveux épars (ces derniers étant de texture fine et de croissance lente). Aucun cas n'a été décrit dans la littérature depuis 1995."},"de":{"name":"Dysplasie, ektodermale - natale Zähne, Typ Turnpenny","definition":"Ein seltenes Syndrom aus der Gruppe der ektodermalen Dysplasien, das durch neonatale Zähne, Hypo- oder Oligodontie der bleibenden Zähne, flexurale Akanthosis nigricans und spärliche Körper- und Kopfhaare (letztere sind dünn und langsam wachsend) gekennzeichnet ist. Seit 1995 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Displasia ectodérmica con dientes natales tipo Turnpenny","definition":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por dientes neonatales, hipo- u oligodontia de la dentición secundaria, acantosis nigricans en zonas de flexión y vello y cabello escasos (siendo este último delgado y de crecimiento lento). No ha habido más casos descritos en la literatura desde 1995."},"it":{"name":"Displasia ectodermica con denti neonatali tipo Turnpenny","definition":"Si tratta di una displasia ectodermica rara, caratterizzata da denti neonatali, ipodontia o oligodontia della dentizione permanente, acanthosis nigricans delle regioni flessorie, peli e capelli radi (che sono sottili e crescono lentamente). Non sono stati descritti nuovi casi dopo il 1995."},"nl":{"name":"Ectodermale dysplasie met natale tanden, Turnpenny-type","definition":"Een zeldzaam ectodermale dysplasiesyndroom gekarakteriseerd door neonatale tanden, hypo- of oligodontie van het permanente gebit, flexurale acanthosis nigricans, en schaarse lichaams- en hoofdhaar (en dit laatste is dun en groeit traag). Sinds 1995 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Displasia ectodérmica com dentes neonatais tipo Turnpenny"},"pl":{"name":"Dysplazja ektodermalna z zębami noworodkowymi typu Turnpenny"},"cs":{"name":"Turnpennyho typ ektodermální dysplázie s natálními zuby"},"uk":{"name":"Ектодермальна дисплазія з натальними зубами, тип Тернпенні","definition":"A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995."},"zh":{"name":"外胚层发育不良症伴发胎生牙，Turnpenny型"},"tr":{"name":"Doğum dişleri olan ektodermal displazi, Turnpenny tipi"}},"xrefs":[{"source":"OMIM","code":"601345","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":"612149960"},{"source":"MONDO","code":"0011041","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563347","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832444","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10526","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":["Childhood","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8574423[PMID]"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"8574423[PMID]"}],"phenotypes":null}