Olivopontocerebellar atrophy-deafness syndrome
Synonyms: Olivopontocerebellar atrophy-hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Olivopontocerebellar atrophy-deafness syndrome | Olivopontocerebellar atrophy-hearing loss syndrome |
| fr | Syndrome d'atrophie olivopontocérébelleuse-surdité | |
| de | Olivopontozerebelläre Atrophie-Schwerhörigkeit-Syndrom | |
| es | Síndrome de atrofia olivopontocerebelosa-sordera | Síndrome de atrofia olivopontocerebelosa-hipoacusia |
| it | Atrofia olivo-ponto-cerebellare - sordità | |
| nl | Olivopontocerebellaire atrofie - doofheid-syndroom | Olivopontocerebellaire atrofie - gehoorverlies-syndroom |
| pt | Síndrome de atrofia olivo-ponto-cerebelosa-surdez | |
| pl | Zanik oliwki, mostu i móżdżku - głuchota | = en |
| cs | Syndrom zahrnující olivopontocerebelární atrofii a hluchotu | = en |
| uk | Синдром оливопонтоцеребеллярної атрофії-глухоти | Синдром оливопонтоцеребеллярної атрофії - втрати слуху |
| zh | 橄榄体脑桥小脑萎缩-耳聋综合征 | 橄榄体脑桥小脑萎缩-听力丧失综合征 |
| tr | Olivopontoserebellar atrofi-sağırlık sendromu | Olivopontoserebellar atrofi-işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0017135 | E | validated | |
| UMLS | C4275113 | E | validated | |
| GARD | 4070 | 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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000365 | Hearing impairment | |
| HP:0001347 | Hyperreflexia | |
| HP:0002119 | Ventriculomegaly | |
| Frequent (79-30%) | ||
| HP:0000639 | Nystagmus | |
| HP:0002542 | Olivopontocerebellar atrophy | |
| Occasional (29-5%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0002353 | EEG abnormality | |
| HP:0001276 | Hypertonia | |
| HP:0000648 | Optic atrophy | |
| HP:0001250 | Seizure | |
| HP:0000486 | Strabismus | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2732
- This record as JSON: /data/d/2732.json