{"orpha":2722,"name":"Odonto-onycho dysplasia-alopecia syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2722/","orphanet_url":"https://www.orpha.net/en/disease/detail/2722","names":{"fr":{"name":"Syndrome de dysplasie odonto-onychiale-alopécie","definition":"Le syndrome de dysplasie odonto-onychiale-alopécie est un syndrome de dysplasie ectodermique génétique rare caractérisé par une alopécie presque totale avec seulement des cheveux fins, épars, cassants et poussant lentement, des cils et des sourcils clairs et épars, et des poils axillaires et pubiens absents. Les signes additionnels sont des ongles des mains fragiles et cassants, des ongles des pieds épais et cassants (les deux présentant une couche cornéenne sous-unguéale), une hypodontie, une microdontie, des dents largement espacées avec un émail hypoplasique, une légère kératose palmoplantaire, des taches « café au lait » et des anomalies des aréoles. Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1985."},"de":{"name":"Odonto-Onycho-Dysplasie mit Alopezie","definition":"Die Odonto-Onycho-Dysplasie mit Alopezie ist eine seltene, genetisch bedingte ektodermale Dysplasie charakterisiert durch eine beinahe vollständige Alopezie mit nur spärlichem, dünnem, brüchigem, langsam wachsendem Haupthaar, blonden und spärlichen Augenbrauen und Wimpern, fehlender Achsel- und Schambehaarung, fragilen und brüchigen Fingernägeln, dicken und brüchigen Zehennägeln (jeweils mit subungualer Hornschicht), Hypodontie, Mikrodontie, weitem Zahnabstand mit hypoplastischem Schmelz, milder palmoplantarer Keratose, Cafe-au-lait-Flecken und Anomalien der Brustwarzen. Seit 1985 gab es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome odonto-ónico displasia-alopecia","definition":"El síndrome odonto-ónico-displasia-alopecia es un síndrome genético poco frecuente de displasia ectodérmica caracterizado por alopecia prácticamente total con un cabello escaso, fino, quebradizo, de crecimiento lento, cejas y pestañas finas y escasas, ausencia de vello púbico y axilar, uñas de las manos frágiles y quebradizas, uñas de los pies gruesas y quebradizas (ambas con una capa córnea subungueal), hipodoncia, microdoncia, dientes muy separados con hipoplasia del esmalte, discreta queratosis palmoplantar, manchas café con leche y anomalías de las areolas. No se han descrito nuevos casos en la literatura desde 1985."},"it":{"name":"Odonto-onico-displasia con alopecia","definition":"L'odonto-onico-displasia con alopecia è una displasia ectodermica genetica rara, caratterizzata da alopecia pressoché completa, con capelli radi, sottili, fragili che crescono lentamente, sopracciglia e ciglia chiare e rade, assenza dei peli ascellari e pubici, unghie delle mani fragili, unghie dei piedi spesse e fragili (entrambe con strato corneo subungueale), ipodontia, microdontia, denti iperdistanziati con ipoplasia dello smalto, lieve cheratosi palmo-plantare, macchie caffè-latte e anomalie delle areole. Non sono stati descritti nuovi casi dopo il 1985."},"nl":{"name":"Odonto-onycho dysplasie - alopecie-syndroom","definition":"Odonto-onycho dysplasie - alopecie-syndroom is een zeldzaam, genetisch ectodermale dysplasie-syndroom dat wordt gekarakteriseerd door bijna volledige alopecie met enkel schaars, dun, broos, traag groeiend hoofdhaar, fijne en schaarse wenkbrauwen en wimpers, afwezig oksel- en schaamhaar, breekbare en broze vingernagels, dikke en broze teennagels (beide met een subunguale hoornlaag), hypodontie, microdontie, uit elkaar staande tanden met hypoplastisch glazuur, milde palmoplantaire keratose, café-au-lait-vlekken en anomalieën van de aureolae. Sinds 1985 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de alopecia-displasia odonto-ungeal"},"pl":{"name":"Dyspazja zębowo-paznokciowa z łysieniem"},"cs":{"name":"Syndrom zahrnující odontoonycho dysplázii a alopecii"},"uk":{"name":"Синдром одонтооніходисплазії-алопеції","definition":"Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985."},"zh":{"name":"牙齿-指甲发育不良-脱发综合征"},"tr":{"name":"Odonto-oniko displazi-alopesi 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":"251530414"},{"source":"MONDO","code":"0017134","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706599","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4051","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":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2982262[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2982262[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:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000692","label":"Tooth malposition","frequency":"Very frequent (99-80%)","criteria":null}]}}