ORPHA:3456
Wildervanck syndrome
Synonyms: Cervicooculoacoustic syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Wildervanck syndrome | Cervicooculoacoustic syndrome |
| fr | Syndrome de Wildervanck | Syndrome cervicooculoacoustique |
| de | Wildervanck-Syndrom | Zerviko-okulo-akustisches Syndrom |
| es | Síndrome de Wildervanck | Síndrome cérvico-ocular-acústico |
| it | Sindrome di Wildervanck | Sindrome cervico-oculo-acustica |
| nl | Syndroom van Wildervanck | Cervico-oculoakoestisch syndroom |
| pt | Síndrome Wildervanck | Síndrome cervico-oculo-acústico |
| pl | Zespół Wildervancka | = en |
| cs | Wildervanckův syndrom | Cervico-oculo-acustic syndrom · Fúze krčních obratlů · Cervikookuloakustický syndrom |
| uk | Синдром Вільдерванка | Цервікоокулоакустичний синдром |
| zh | Wildervanck综合征 | 颈眼听力障碍综合征 |
| tr | Wildervanck sendromu | Servikooküloakustik sendrom |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 314600 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010759 | E | validated | |
| UMLS | C0265239 | E | validated | |
| GARD | 5569 | E | validated | |
| MedDRA | 10069402 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:93454Dysostosis with predominant vertebral and costal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20534924[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.
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HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006897 | Abducens palsy | |
| HP:0008527 | Congenital sensorineural hearing impairment | |
| HP:0002949 | Fused cervical vertebrae | |
| HP:0000470 | Short neck | |
| Occasional (29-5%) | ||
| HP:0000324 | Facial asymmetry | |
| HP:0010628 | Facial palsy | |
| HP:0001132 | Lens subluxation | |
| HP:0002162 | Low posterior hairline | |
| HP:0002435 | Meningocele | |
| HP:0000538 | Pseudopapilledema | |
| HP:0000465 | Webbed neck | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3456
- This record as JSON: /data/d/3456.json