{"orpha":3352,"name":"Tricho-dento-osseous syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["TDO syndrome"],"definition":"Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3352/","orphanet_url":"https://www.orpha.net/en/disease/detail/3352","names":{"fr":{"name":"Syndrome tricho-dento-osseux","definition":"Le syndrome tricho-dento-osseux (TDO) est une forme de dysplasie ectodermique caractérisée par des cheveux bouclés à frisés à la naissance, une hypoplasie de l'émail avec décoloration et taurodontie des molaires, une augmentation de la densité minérale osseuse (DMO) et de l'épaisseur de la corticale des os du crâne."},"de":{"name":"Tricho-dento-ossäres Syndrom","synonyms":["TDO-Syndrom"],"definition":"Die Tricho-dento-ossäre Dysplasie (TDO) gehört zur Gruppe der ektodermalen Dysplasien und ist gekennzeichnet durch gelockte/geknickte Haare bei Geburt, Schmelzhypoplasie mit Verfärbung, Taurodontie der Molaren, allgemein vermehrte Knochen-Mineraldichte (BMD) und verdicktes Schädeldach."},"es":{"name":"Síndrome trico-dento-óseo","definition":"La displasia trico-dento-ósea (TDO) pertenece al grupo de displasias ectodérmicas y se caracteriza por cabellos crespos o rizados desde el nacimiento, hipoplasia del esmalte con decoloración y taurodontismo en molares, aumento de la densidad mineral ósea (DMO) general y aumento en el grosor de los huesos corticales del cráneo."},"it":{"name":"Sindrome trico-dento-ossea","synonyms":["Sindrome TDO"]},"nl":{"name":"Tricho-dento-ossaal syndroom","synonyms":["TDO-syndroom"],"definition":"Tricho-dento-ossale dysplasie (TDO) behoort tot de ectodermale dysplasieën, en wordt gekenmerkt door gekruld haar/kroeshaar bij de geboorte, hypoplasie van tandglazuur met verkleuring en taurodontie van kiezen, verhoogde algehele botmineraaldichtheid (BMD), en toegenomen dikte van corticaal bot van schedel."},"pt":{"name":"Síndrome trico-dento-ósseo","synonyms":["Síndrome TDO"]},"pl":{"name":"Zespół włosowo-zębowo-kostny","synonyms":["Zespół TDO"]},"cs":{"name":"Trichodentooseální syndrom","synonyms":["TDO syndrom"]},"uk":{"name":"Триходентокістковий синдром","synonyms":["TDO-синдром"],"definition":"Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull."},"zh":{"name":"毛发-牙齿-骨综合征","synonyms":["TDO 综合征"]},"tr":{"name":"Triko-dento-osseous sendromu","synonyms":["TDO sendromu"]}},"xrefs":[{"source":"OMIM","code":"190320","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":"131993435"},{"source":"MONDO","code":"0008592","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536549","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265333","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7799","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":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]},{"orpha":79367,"name":"Syndromic hair shaft abnormality","classifications":[156,187]}],"children":[],"genes":[{"symbol":"DLX3","name":"distal-less homeobox 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18492670[PMID]_22969805[PMID]","hgnc":"2916","ensembl":"ENSG00000064195","omim":"600525","loci":["17q21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-25","source":"2387085[PMID]_5054226[PMID]","terms":[{"hpo":"HP:0011362","label":"Abnormal hair quantity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000264","label":"Abnormality of the mastoid","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009722","label":"Dental enamel pits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006285","label":"Enamel hypomineralization","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001808","label":"Fragile nails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030312","label":"Obliteration of the calvarial diploe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030758","label":"Periapical tooth abscess","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000679","label":"Taurodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006485","label":"Agenesis of incisor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040019","label":"Finger clinodactyly","frequency":"Occasional (29-5%)","criteria":null}]}}