Deafness-oligodontia syndrome
Synonyms: Hearing loss-oligodontia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Deafness-oligodontia syndrome | Hearing loss-oligodontia syndrome |
| fr | Syndrome de surdité-oligodontie | |
| de | Schwerhörigkeit - Oligodontie | |
| es | Síndrome de sordera-oligodoncia | Síndrome de hipoacusia-oligodoncia |
| it | Sordità - oligodontia | |
| nl | Doofheid - oligodontie-syndroom | Gehoorverlies - oligodontie-syndroom |
| pt | Síndrome de surdez-oligodontia | Síndrome de perda auditiva-oligodontia |
| pl | Głuchota - oligodoncja | = en |
| cs | Syndrom zahrnující hluchotu a oligodoncii | = en |
| uk | Синдром глухоти-олігодонтії | Синдром приглухуватості-олігодонтії |
| zh | 耳聋-少牙畸形综合征 | 听力丧失-少牙畸形综合征 |
| tr | Sağırlık-oligodontia sendromu | İşitme kaybı-oligodonti sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 221740 | E | validated | |
| ICD-10 | H90.3 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0009089 | E | validated | |
| MeSH | C538049 | E | validated | |
| UMLS | C1857333 | E | validated | |
| GARD | 1698 | 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 (3):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_646726[PMID]_485932[PMID]_9720683[PMID] |
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 646726[PMID]_485932[PMID]_9720683[PMID] |
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
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000677 | Oligodontia | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0002321 | Vertigo | |
| Occasional (29-5%) | ||
| HP:0000359 | Abnormality of the inner ear | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3230
- This record as JSON: /data/d/3230.json