{"orpha":3230,"name":"Deafness-oligodontia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hearing loss-oligodontia syndrome"],"definition":"Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3230/","orphanet_url":"https://www.orpha.net/en/disease/detail/3230","names":{"fr":{"name":"Syndrome de surdité-oligodontie","definition":"Le syndrome de surdité-oligodontie est caractérisé par une surdité neuro-sensorielle et une oligodontie/hypodontie. Il a été décrit chez quatre enfants de deux fratries et un cas isolé. Des vertiges ont été rapportés chez les deux enfants de l'une des fratries. Le mode de transmission est autosomique récessif."},"de":{"name":"Schwerhörigkeit - Oligodontie"},"es":{"name":"Síndrome de sordera-oligodoncia","synonyms":["Síndrome de hipoacusia-oligodoncia"],"definition":"Es un síndrome caracterizado por hipoacusia neurosensorial y oligodoncia o hipodoncia. Se ha descrito en dos parejas de hermanos y en un caso aislado. En una de las parejas de hermanos se describió vértigo. La transmisión parece ser autosómica recesiva."},"it":{"name":"Sordità - oligodontia"},"nl":{"name":"Doofheid - oligodontie-syndroom","synonyms":["Gehoorverlies - oligodontie-syndroom"],"definition":"Een syndroom, gekenmerkt door sensorineuraal gehoorverlies en oligodontie/hypodontie. Het werd beschreven bij twee paren van broers/zussen en één geïsoleerd geval. Bij één paar broers/zussen werd duizeligheid gerapporteerd. Transmissie lijkt autosomaal recessief te gebeuren."},"pt":{"name":"Síndrome de surdez-oligodontia","synonyms":["Síndrome de perda auditiva-oligodontia"]},"pl":{"name":"Głuchota - oligodoncja","synonyms":["Hearing loss-oligodontia syndrome"]},"cs":{"name":"Syndrom zahrnující hluchotu a oligodoncii","synonyms":["Hearing loss-oligodontia syndrome"]},"uk":{"name":"Синдром глухоти-олігодонтії","synonyms":["Синдром приглухуватості-олігодонтії"],"definition":"Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive."},"zh":{"name":"耳聋-少牙畸形综合征","synonyms":["听力丧失-少牙畸形综合征"]},"tr":{"name":"Sağırlık-oligodontia sendromu","synonyms":["İşitme kaybı-oligodonti sendromu"]}},"xrefs":[{"source":"OMIM","code":"221740","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H90.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"294533028"},{"source":"MONDO","code":"0009089","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538049","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857333","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1698","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":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_646726[PMID]_485932[PMID]_9720683[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"646726[PMID]_485932[PMID]_9720683[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000359","label":"Abnormality of the inner ear","frequency":"Occasional (29-5%)","criteria":null}]}}