{"orpha":2027,"name":"Gingival fibromatosis-progressive deafness syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Gingival fibromatosis-progressive hearing loss syndrome","Jones syndrome"],"definition":"A rare syndrome characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2027/","orphanet_url":"https://www.orpha.net/en/disease/detail/2027","names":{"fr":{"name":"Syndrome de fibromatose gingivale-surdité","synonyms":["Syndrome de Jones"],"definition":"Le syndrome de fibromatose gingivale-surdité est caractérisé par une fibromatose gingivale associée à une surdité neuro-sensorielle progressive. Il a été décrit dans deux familles (avec au moins 16 membres atteints sur cinq générations dans l'une des familles, et cinq cas sur trois générations dans l'autre). Ce syndrome se transmet de manière autosomique dominante."},"de":{"name":"Gingiva-Fibromatose-progressive Schwerhörigkeit-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch Fibromatose der Gingiva und progrediente Schallempfindungsschwerhörigkeit. Es wurde in 2 Familien beschrieben, mit mindestens 16 Betroffenen aus 5 Generationen in der einen und 5 Betroffenen aus 3 Generationen in der anderen Familie. Die Vererbung ist autosomal-dominant."},"es":{"name":"Síndrome de fibromatosis gingival-sordera progresiva","synonyms":["Síndrome de Jones","Síndrome de fibromatosis gingival-hipoacusia progresiva"],"definition":"Es un síndrome poco frecuente caracterizado por fibromatosis gingival asociada a pérdida auditiva sensorineural progresiva. Se ha descrito en dos familias (con al menos 16 miembros afectados a lo largo de cinco generaciones en una de las familias, y cinco miembros afectados a lo largo de tres generaciones en la otra familia). Se transmite como un rasgo autosómico dominante."},"it":{"name":"Fibromatosi gengivale - sordità","synonyms":["Sindrome di Jones"]},"nl":{"name":"Gingivale fibromatose - progressieve doofheid-syndroom","synonyms":["Gingivale fibromatose - progressief gehoorverlies-syndroom","Syndroom van Jones"],"definition":"Een zeldzaam syndroom gekarakteriseerd door gingivale fibromatose geassocieerd met progressief sensorineuraal gehoorverlies. Het werd beschreven bij twee families (met minstens 16 getroffen leden uit vijf generaties in een van de families, en vijf getroffen leden uit drie generaties in de andere familie). Het wordt overgedragen als een autosomaal dominante eigenschap."},"pt":{"name":"Síndrome de fibromatose gengival-surdez progressiva","synonyms":["Síndrome Jones"]},"pl":{"name":"Włókniakowatość dziąseł - postępująca głuchota","synonyms":["Zespół Jonesa"]},"cs":{"name":"Syndrom zahrnující gingivální fibromatózu a progresivní hluchotu","synonyms":["Jonesův syndrom"]},"uk":{"name":"Синдром фіброматозу ясен - прогресуючої глухоти","synonyms":["Синдром прогресуючої приглухуватості при фіброматозі ясен","Синдром Джонса"],"definition":"A rare syndrome characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait."},"zh":{"name":"牙龈纤维瘤病-进行性耳聋综合征","synonyms":["牙龈纤维瘤病-进行性耳聋综合征"]},"tr":{"name":"Dişeti fibromatozu-ilerleyici sağırlık sendromu","synonyms":["Jones sendromu","Dişeti fibromatozis-ilerleyici işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"135550","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":"506707210"},{"source":"MONDO","code":"0007612","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535886","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1851112","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3056","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":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"4061496[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4061496[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000169","label":"Gingival fibromatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null}]}}