Progressive deafness with stapes fixation
Synonyms: Progressive hearing loss with stapes fixation · Stapedo-vestibular ankylosis · Thies-Reis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
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).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive deafness with stapes fixation | Progressive hearing loss with stapes fixation · Stapedo-vestibular ankylosis · Thies-Reis syndrome |
| fr | Surdité progressive par ankylose de l'étrier | Ankylose stapédovestibulaire · Surdité progressive par ankylose des osselets · Syndrome de Thies-Reis |
| de | Hörverlust, progressiver, mit Stapesankylose | Thies-Reis-Syndrom |
| es | Sordera progresiva con fijación del estribo | Hipoacusia progresiva con fijación del estribo |
| it | Sordità progressiva associata ad anchilosi della staffa | Anchilosi stapediovestibolare · Sindrome di Thies-Reis |
| nl | Progressieve doofheid met stijgbeugelfixatie | Progressief gehoorverlies met stijgbeugelfixatie · Stapedo-vestibulaire ankylose · Syndroom van Thies-Reis |
| pt | Surdez progressiva com fixação do estapédio | Anquilose estapédio-vestibular · Perda auditiva progressiva com fixação do estapédio · Síndrome Thies-Reis |
| pl | Postępująca głuchota z unieruchomieniem kosteczek | Ankyloza strzemiączkowo-przedsionkowa · Zespół Thiesa i Reisa |
| cs | Progresivní hluchota s fixací třmínku | Stapedovestibulární ankylóza · Thiesové-Reisův syndrom · Thies-Reisův syndrom |
| uk | Прогресуюча глухота з фіксацією стремінця | Прогресуюча втрата слуху з фіксацією стремінців · Стапедо-вестибулярний анкілоз · Синдром Тієса-Рейса |
| zh | 进展性耳聋伴镫骨固定 | 进行性听力丧失伴镫骨固定 |
| tr | Stapes fiksasyonu ile seyreden ilerleyici sağırlık | Thies-Reis sendromu · Stapedo-vestibüler ankiloz · Stapes fiksasyonu ile seyreden ilerleyici işitme kaybı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601449 | E | validated | |
| ICD-10 | H74.3 | NTBT | attributed | validated |
| ICD-11 | LD2H.2 | E | specific | validated |
| MONDO | 0011080 | E | validated | |
| MeSH | C563316 | E | validated | |
| UMLS | C1832354 | E | validated | |
| GARD | 5170 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
2 annotations · validated 2021-07-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008513 | Bilateral conductive hearing impairment | |
| HP:0000381 | Stapes ankylosis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 8818948[PMID]_33710147[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3235
- This record as JSON: /data/d/3235.json