{"orpha":2791,"name":"Otodental syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Globodontia","Otodental dysplasia"],"definition":"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2791/","orphanet_url":"https://www.orpha.net/en/disease/detail/2791","names":{"fr":{"name":"Syndrome oto-dentaire","synonyms":["Dysplasie oto-dentaire","Globodontie"],"definition":"Le syndrome oto-dentaire est une maladie héréditaire très rare, caractérisée par des canines et des molaires extrêmement élargies (globodontie), associés à une surdité neurosensorielle."},"de":{"name":"Oto-dentales Syndrom","synonyms":["Dysplasie, oto-dentale","Globodontie"],"definition":"Das Otodentale Syndrom ist eine sehr seltene erbliche Störung und gekennzeichnet durch erheblich vergrößerte Eck- und Backenzähne (Globodontie) in Verbindung mit sensorineuralem Gehörverlust."},"es":{"name":"Síndrome otodental","synonyms":["Displasia otodental","Globodontia"],"definition":"El síndrome otodental es una enfermedad hereditaria muy rara caracterizada por la presencia de caninos y molares extremadamente grandes (globodoncia) asociados a una pérdida de audición neurosensorial."},"it":{"name":"Sindrome otodentale","synonyms":["Displasia otodentale","Globodontia"],"definition":"La sindrome otodentale è una malattia ereditaria molto rara caratterizzata da canini e molari grossolanamente allargati (globodontia) associati alla sordità neurosensoriale."},"nl":{"name":"Otodentaal syndroom","synonyms":["Globodontie","Otodentale dysplasie"],"definition":"Otodentaal syndroom is een zeer zeldzame, erfelijke aandoening gekenmerkt door sterk vergrote hoektanden en molaren (globodontie), geassocieerd met een perceptief gehoorverlies."},"pt":{"name":"Síndrome oto-dentária","synonyms":["Displasia oto-dentária","Globodontia"]},"pl":{"name":"Zespół uszno-zębowy","synonyms":["Dysplazja uszno-zębowa","Globodoncja"]},"cs":{"name":"Otodentální syndrom","synonyms":["Globodoncie","Otodentální dysplázie"]},"uk":{"name":"Отодентальний синдром","synonyms":["Глободонтія","Отодентальна дисплазія"],"definition":"Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss."},"zh":{"name":"耳牙综合征","synonyms":["耳牙发育不良"]},"tr":{"name":"Otodental sendrom","synonyms":["Globodonti","Otodental displazi"]}},"xrefs":[{"source":"OMIM","code":"166750","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K00.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA30.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1835368521"},{"source":"MONDO","code":"0008161","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563482","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833693","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4168","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":262092,"name":"Partial deletion of the long arm of chromosome 11 syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"FGF3","name":"fibroblast growth factor 3","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"17656375[PMID]","hgnc":"3681","ensembl":"ENSG00000186895","omim":"164950","loci":["11q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"16722606[PMID]"},{"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":"2017-11-27","source":"16722606[PMID]_28151902[PMID]_11552150[PMID]_12147582[PMID]_7227680[PMID]_1175318[PMID]_6585292[PMID]_5255997[PMID]","terms":[{"hpo":"HP:0011078","label":"Abnormality of canine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011070","label":"Abnormality of molar morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006479","label":"Abnormality of the dental pulp","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000408","label":"Progressive sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000326","label":"Abnormality of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011051","label":"Agenesis of premolar","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001757","label":"High-frequency sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000704","label":"Periodontitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003771","label":"Pulp calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000679","label":"Taurodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100719","label":"Lens coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011068","label":"Odontoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031353","label":"Otitis media with effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000480","label":"Retinal coloboma","frequency":"Occasional (29-5%)","criteria":null}]}}