{"orpha":3235,"name":"Progressive deafness with stapes fixation","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Progressive hearing loss with stapes fixation","Stapedo-vestibular ankylosis","Thies-Reis syndrome"],"definition":"Stapes fixation (stapediovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3235/","orphanet_url":"https://www.orpha.net/en/disease/detail/3235","names":{"fr":{"name":"Surdité progressive par ankylose de l'étrier","synonyms":["Ankylose stapédovestibulaire","Surdité progressive par ankylose des osselets","Syndrome de Thies-Reis"],"definition":"L'ankylose de l'étrier (ou ankylose stapédo-vestibulaire) est une surdité survenant suite à une destruction du ligament annulaire suivie d'une production excessive de tissu conjonctif au moment de la cicatrisation. Ce phénomène est principalement observé dans l'otospongiose, mais également en cas d'otite moyenne chronique avec tympanosclérose et d'autres maladies osseuses rares comme la maladie de Paget et l'ostéogenèse imparfaite (maladie de Lobstein)."},"de":{"name":"Hörverlust, progressiver, mit Stapesankylose","synonyms":["Thies-Reis-Syndrom"]},"es":{"name":"Sordera progresiva con fijación del estribo","synonyms":["Hipoacusia progresiva con fijación del estribo"],"definition":"La fijación del estribo (anquilosis estapediovestibular) es un trastorno de hipoacusia que aparece como consecuencia de la destrucción del ligamento anular, seguida por la producción excesiva de tejido conectivo durante el proceso de curación. Esta afección se observa principalmente en la otosclerosis, pero también se da en la otitis media crónica con timpanoesclerosis y en otras enfermedades raras de los huesos tales como la enfermedad de Paget y la osteogénesis imperfecta (enfermedad de Lobstein)."},"it":{"name":"Sordità progressiva associata ad anchilosi della staffa","synonyms":["Anchilosi stapediovestibolare","Sindrome di Thies-Reis"]},"nl":{"name":"Progressieve doofheid met stijgbeugelfixatie","synonyms":["Progressief gehoorverlies met stijgbeugelfixatie","Stapedo-vestibulaire ankylose","Syndroom van Thies-Reis"],"definition":"Stijgbeugelfixatie (stapedovestibulaire ankylose) is een aandoening met gehoorverlies die optreedt als gevolg van destructie van annulair ligament gevolgd door overmatige productie van bindweefsel tijdens het helingsproces. Deze aandoening wordt vooral waargenomen bij otosclerose, maar wordt ook aangetroffen bij chronische middenoorontsteking met tympanosclerose, en andere zeldzame botaandoeningen zoals ziekte van Paget en osteogenesis imperfecta (ziekte van Lobstein)."},"pt":{"name":"Surdez progressiva com fixação do estapédio","synonyms":["Anquilose estapédio-vestibular","Perda auditiva progressiva com fixação do estapédio","Síndrome Thies-Reis"]},"pl":{"name":"Postępująca głuchota z unieruchomieniem kosteczek","synonyms":["Ankyloza strzemiączkowo-przedsionkowa","Zespół Thiesa i Reisa"]},"cs":{"name":"Progresivní hluchota s fixací třmínku","synonyms":["Stapedovestibulární ankylóza","Thiesové-Reisův syndrom","Thies-Reisův syndrom"]},"uk":{"name":"Прогресуюча глухота з фіксацією стремінця","synonyms":["Прогресуюча втрата слуху з фіксацією стремінців","Стапедо-вестибулярний анкілоз","Синдром Тієса-Рейса"],"definition":"Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease)."},"zh":{"name":"进展性耳聋伴镫骨固定","synonyms":["进行性听力丧失伴镫骨固定"]},"tr":{"name":"Stapes fiksasyonu ile seyreden ilerleyici sağırlık","synonyms":["Thies-Reis sendromu","Stapedo-vestibüler ankiloz","Stapes fiksasyonu ile seyreden ilerleyici işitme kaybı"]}},"xrefs":[{"source":"OMIM","code":"601449","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H74.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1909954882"},{"source":"MONDO","code":"0011080","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563316","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832354","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5170","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-13","source":"8818948[PMID]_33710147[PMID]","terms":[{"hpo":"HP:0008513","label":"Bilateral conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000381","label":"Stapes ankylosis","frequency":"Very frequent (99-80%)","criteria":null}]}}