{"orpha":2890,"name":"Pili torti-onychodysplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2890/","orphanet_url":"https://www.orpha.net/en/disease/detail/2890","names":{"fr":{"name":"Syndrome de pili torti-onychodysplasie","definition":"Syndrome de dysplasie ectodermique rare caractérisé par une onychodystrophie congénitale (notamment de la partie distale des ongles) et par une hypotrichose sévère accompagnée d'une alopécie affectant les sourcils, les cils et les poils. Les cheveux ainsi que les poils de la barbe, du pubis et des aisselles sont fragiles et, à la microscopie électronique, présentent une forme torsadée. Aucun cas n'a été décrit dans la littérature depuis 1991."},"de":{"name":"Pili torti-Onychodysplasie-Syndrom","synonyms":["Syndrom der Pili torti mit Onychodystrophie"],"definition":"Ein seltene Form der ektodermalen Dysplasie, die durch kongenitale Onychodystrophie (insbesondere des distalen Nagels) und schwere Hypotrichose mit Alopezie der Augenbrauen, Wimpern und Körperhaare gekennzeichnet ist. Kopfhaut, Bart, Scham- und Achselhaar sind brüchig und zeigen in der Elektronenmikroskopie ein verdrehtes Muster. Seit 1991 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de pili torti-onicodisplasia","definition":"Es una displasia ectodérmica poco frecuente caracterizada por onicodistrofia congénita (particularmente de la parte distal ungueal) y grave hipertricosis junto con alopecia que afecta a las cejas, las pestañas y al vello corporal. El cabello, la barba, el vello púbico y el axilar presentan fragilidad mostrando un patrón de torsión por microscopía electrónica. No ha habido más casos descritos en la literatura desde 1991."},"it":{"name":"Sindrome da pili torti e onicodisplasia","definition":"È una displasia ectodermica rara caratterizzata da onicodistrofia congenita (soprattutto della porzione distale dell'unghia) e ipotricosi grave con alopecia, che interessa le sopracciglia, le ciglia e l'apparato pilifero. I capelli, i peli della barba, del pube e delle ascelle sono fragili e torti al microscopio elettronico. Non sono stati descritti nuovi casi dopo il 1991."},"nl":{"name":"Pili torti - onychodysplasie-syndroom","definition":"Een zeldzaam ectodermale dysplasiesyndroom gekarakteriseerd door congenitale onychodystrofie (vooral van de distale nagel) en ernstige hypotrichose met alopecie van de wenkbrauwen, wimpers en lichaamsbeharing. Hoofd-, baard-, schaam- en okselhaar is broos en vertoont een kronkelend patroon op elektronenmicroscopie. Sinds 1991 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de pili torti-onicodisplasia"},"pl":{"name":"Włosy skręcone - dysplazja paznokci"},"cs":{"name":"Syndrom zahrnující pili torti a onychodysplázii"},"uk":{"name":"Синдром перекрученого волосся-оніходисплазії","definition":"A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991."},"zh":{"name":"卷发-甲发育不良综合征"},"tr":{"name":"Pili torti-onikodisplazi sendromu"}},"xrefs":[{"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":"1146074299"},{"source":"MONDO","code":"0017321","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537399","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509919","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4364","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"1879585[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1879585[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-27","source":"1879585[PMID]_1479096[PMID]","terms":[{"hpo":"HP:0000968","label":"Ectodermal dysplasia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002223","label":"Absent eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000561","label":"Absent eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002289","label":"Alopecia universalis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008394","label":"Congenital onychodystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030953","label":"Conjunctival hyperemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012725","label":"Cutaneous syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007439","label":"Generalized keratosis follicularis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010562","label":"Keloids","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002552","label":"Trichodysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Occasional (29-5%)","criteria":null}]}}