{"orpha":2892,"name":"Pilodental dysplasia-refractive errors syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Euhidrotic ectodermal dysplasia","Kopysc-Barczyk-Krol syndrome"],"definition":"Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2892/","orphanet_url":"https://www.orpha.net/en/disease/detail/2892","names":{"fr":{"name":"Dysplasie pilo-dentaire","synonyms":["Dysplasie ectodermique euhidrotique","Syndrome de Kopysc-Barczyk-Krol"],"definition":"Dysplasie ectodermique rare caractérisée par des anomalies dysplasiques des cheveux et des dents (hypodontie, dents de forme anormale, hypotrichose du cuir chevelu et maladie des cheveux annelés), une hyperkératose folliculaire affectant le tronc et les membres, et une hypermétropie. Une ligne de démarcation intensifiée, une hyperpigmentation réticulaire de la nuque et un astigmatisme ont également été rapportés. Aucun cas n'a été décrit dans la littérature depuis 1985."},"de":{"name":"Dysplasie, pilo-dentale - Refraktionsanomalien","synonyms":["Dysplasie, ektodermale euhidrotische"]},"es":{"name":"Síndrome de displasia pilodental-errores refractivos","synonyms":["Síndrome de Kopysc-Barczyk-Krol"],"definition":"Síndrome de displasia pilodental - errores refractivos es un síndrome de displasia ectodérmica poco frecuente caracterizado por anomalías displásicas del cabello y los dientes (incluyendo hipodoncia, dientes con forma anómala, hipotricosis del cuero cabelludo y pili annulati), hiperqueratosis folicular en tronco y extremidades, e hipermetropía. También se han descrito delimitación intensificada e hiperpigmentación reticulada de la nuca, así como astigmatismo. No se han descrito más casos en la literatura desde 1985."},"it":{"name":"Sindrome da displasia pilodentale ed errori refrattivi","synonyms":["Displasia ectodermica euidrotica","Sindrome di Kopysc-Barczyk-Krol"],"definition":"La sindrome da displasia pilodentale ed errori refrattivi è una displasia ectodermica rara, caratterizzata da anomalie displastiche dei capelli e dei denti (ipodontia, anomalie della forma dei denti, ipotricosi del cuoio capelluto e capelli ad anello), ipercheratosi follicolare del tronco e degli arti, ed iperopia. Può essere presente una iperpigmentazione reticolare ben demarcata sulla nuca e l'astigmatismo. Non sono stati descritti nuovi casi dopo il 1985"},"nl":{"name":"Pilodentale dysplasie - refractiefouten-syndroom","synonyms":["Euhidrotische ectodermale dysplasie","Syndroom van Kopysc-Barczyk-Krol"],"definition":"Pilodentale dysplasie - refractiefouten-syndroom is een zeldzaam ectodermale dysplasiesyndroom dat gekarakteriseerd wordt door dysplastische anomalieën van het haar en de tanden (waaronder hypodontie, tanden met een abnormale vorm, hypotrichose van de hoofdhuid en pili annulati), folliculaire hyperkeratose op de romp en ledematen, en hyperopie. Scherpere afbakening en reticulaire hyperpigmentatie de nek, en astigmatisme werden ook reeds gerapporteerd. Sinds 1985 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de displasia pilo-dentária-erros refrativos","synonyms":["Displasia ectodérmica eu-hidrótica","Síndrome Kopysc-Barczyk-Krol"]},"pl":{"name":"Dyspazja włosowo-zębowa - zaburzenia refrakcji","synonyms":["Dysplazja ektodermalna euhydryczna","Zespół Kopyścia, Barczyka i Król"],"definition":"*Dyspazja włosowo-zębowa - zaburzenia refrakcji jest rzadką dysplazją ektodermalną, która charakteryzuje się dysplastycznymi nieprawidłowościami włosów i zębów (hipodoncja (brak zębów), nieprawidłowy kształt zębów, słabe/brak włosów na skórze głowy i pili annulati (włosy nakrapiane)), nadmiernym rogowaceniem przymieszkowym na tułowiu i kończynach oraz nadwzrocznością. Opisywano również nasilone, wyraźnie zaznaczone siatkowate przebarwienia karku oraz astygmatyzm. Od 1985 r. nie ma w literaturze nowych opisów."},"cs":{"name":"Syndrom zahrnující pilodentální dysplázii a refrakční vady","synonyms":["Euhidrotická ektodermální dysplázie","Kopyscův-Barczykův-Krolův syndrom","Kopysc-Barczyk-Krolův syndrom"]},"uk":{"name":"Синдром дисплазії опорно-рухового апарату з аномаліями рефракції","synonyms":["Еугідротична ектодермальна дисплазія","Синдром Копиця-Барчика-Кроля"],"definition":"Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985."},"zh":{"name":"毛发牙齿发育不良-屈光不正综合征","synonyms":["嗜汗性外胚叶发育不良"]},"tr":{"name":"Pilodental displazi-gözün kırma hataları sendromu","synonyms":["Kopysc-Barczyk-Krol sendromu","Öhidrotik ektodermal displazi"]}},"xrefs":[{"source":"OMIM","code":"262020","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":"487533617"},{"source":"MONDO","code":"0009873","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535763","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849805","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"277","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":2.0,"area":"Worldwide","status":"Validated","source":"4018802[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4018802[PMID]"}],"phenotypes":null}