{"orpha":79129,"name":"Trichodysplasia-amelogenesis imperfecta syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79129/","orphanet_url":"https://www.orpha.net/en/disease/detail/79129","names":{"fr":{"name":"Syndrome de trichodysplasie-amélogenèse imparfaite","definition":"Syndrome de dysplasie ectodermique rare caractérisé par l'association d'une amélogenèse imparfaite et d'une trichodysplasie avec des creux symétriques dans les cuticules de la tige pilaire. Aucun cas n'a été décrit dans la littérature depuis 1993."},"de":{"name":"Trichodysplasie-Amelogenesis imperfecta-Syndrom","definition":"Ein seltenes Ektodermale-Dysplasie-Syndrom, das durch die Assoziation von Amelogenesis imperfecta und Trichodysplasie mit symmetrischen Grübchen in der Haarkutikula der Haarschäfte gekennzeichnet ist. Seit 1993 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de tricodisplasia-amelogénesis imperfecta","definition":"Es un síndrome poco frecuente de displasia ectodérmica caracterizado por la asociación de amelogénesis imperfecta y tricodisplasia con fosas simétricas en la cutícula de los tallos pilosos. No se han descrito nuevos casos en la literatura desde 1993."},"it":{"name":"Sindrome tricodisplasia-amelogenesi imperfetta","definition":"Si tratta di una displasia ectodermica rara, caratterizzata da amelogenesi imperfetta e tricodisplasia con fossette simmetriche nelle cuticole dei fusti dei capelli. Non sono stati descritti nuovi casi dopo il 1993."},"nl":{"name":"Trichodysplasie - amelogenesis imperfecta-syndroom","definition":"Een zeldzaam syndroom van ectodermale dysplasie, gekenmerkt door de associatie van amelogenesis imperfecta en trichodysplasie met symmetrische kuiltjes in cuticula van haarschachten. Sinds 1993 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Tricodisplasia - amelogénese imperfeita"},"pl":{"name":"Trichodysplazja - wrodzony niedorozwój szkliwa"},"cs":{"name":"Syndrom zahrnující trichodysplázii a amelogenesis imperfecta"},"uk":{"name":"Синдром триходисплазії - недосконалого амелогенезу","definition":"A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993."},"zh":{"name":"毛发-牙釉质发育不良综合征"},"tr":{"name":"Trikodisplazi-amelogenesis imperfekta 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":"932022875"},{"source":"MONDO","code":"0019205","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304344","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":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"8419879[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8419879[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"8419879[PMID]","terms":[{"hpo":"HP:0002293","label":"Alopecia of scalp","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000705","label":"Amelogenesis imperfecta","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002552","label":"Trichodysplasia","frequency":"Very frequent (99-80%)","criteria":null}]}}