{"orpha":3351,"name":"Trichodental syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Kersey syndrome"],"definition":"A rare ectodermal dysplasia syndrome characterized by the association of sparse, fine, dry, slow growing hair with variable dental abnormalities including oligodontia, peg-shaped incisors, and shell teeth. Mild intellectual disability, microcephaly, and dysmorphic facial features have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3351/","orphanet_url":"https://www.orpha.net/en/disease/detail/3351","names":{"fr":{"name":"Syndrome tricho-dentaire","synonyms":["Syndrome de Kersey"],"definition":"Syndrome rare de dysplasie ectodermique caractérisé par l'association de cheveux clairsemés, fins, cassants et dont la pousse est ralentie, et d'anomalies dentaires variables, notamment d'une oligodontie, d'une taurodontie des molaires et d'une hypoplasie de l'émail avec décoloration. Une déficience intellectuelle légère, une microcéphalie et une dysmorphie faciale ont également été rapportées."},"de":{"name":"Trichodentales Syndrom","synonyms":["Kersey-Syndrom","Trichodentale Dysplasie"],"definition":"Ein seltenes Ektodermale-Dysplasie-Syndrom, das durch spärliches, dünnes, trockenes und langsam wachsendes Haar in Verbindung mit verschiedenen Zahnanomalien wie Oligodontie, pflockartige Schneidezähne und Muschelzähne gekennzeichnet ist. Leichte Intelligenzminderung, Mikrozephalie und Gesichtsdysmorphien wurden ebenfalls beschrieben."},"es":{"name":"Síndrome trico-dental","synonyms":["Síndrome de Kersey"],"definition":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por la asociación de cabello escaso, fino, seco y de crecimiento lento con anomalías dentales variables, como oligodoncia, incisivos en forma de clavija y dientes en concha. También se ha descrito leve discapacidad intelectual, microcefalia y rasgos faciales dismórficos."},"it":{"name":"Sindrome tricodentale","synonyms":["Sindrome di Kersey"],"definition":"Si tratta di una displasia ectodermica rara, caratterizzata da capelli radi, sottili, secchi e a crescita lenta, e anomalie variabili dei denti (oligodontia, incisivi assottigliati e denti a conchiglia). I pazienti possono presentare anche disabilità intellettiva lieve, microcefalia e dismorfismi facciali."},"nl":{"name":"Trichodentaal syndroom","synonyms":["Syndroom van Kersey"],"definition":"Een zeldzaam syndroom van ectodermale dysplasie, gekarakteriseerd door de associatie van schaars, fijn, droog, traag groeiend haar met variabele dentale afwijkingen, waaronder oligodontie, kegelvormige snijtanden, en holle gebitselementen. Milde intellectuele achterstand, microcefalie, en dysmorfe gelaatskenmerken werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome trico-dentária","synonyms":["Síndrome Kersey"]},"pl":{"name":"Zespół włosowo-zębowy","synonyms":["Zespół Kersey'a"]},"cs":{"name":"Trichodentální syndrom","synonyms":["Kerseyův syndrom"]},"uk":{"name":"Триходентальний синдром","synonyms":["Синдром Керсі"],"definition":"A rare ectodermal dysplasia syndrome characterized by the association of sparse, fine, dry, slow growing hair with variable dental abnormalities including oligodontia, peg-shaped incisors, and shell teeth. Mild intellectual disability, microcephaly, and dysmorphic facial features have also been reported."},"zh":{"name":"毛母细胞瘤","synonyms":["Kersey 综合征"]},"tr":{"name":"Trikodental sendrom","synonyms":["Kersey sendromu"]}},"xrefs":[{"source":"OMIM","code":"601453","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":"944650339"},{"source":"MONDO","code":"0011083","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536551","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406724","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"265","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]},{"orpha":79367,"name":"Syndromic hair shaft abnormality","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"8574424[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8574424[PMID]"}],"phenotypes":null}