Wildervanck syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CERVICOOCULOACOUSTIC SYNDROME Cervico-oculo-acoustic syndrome |
| Number of Symptoms | 21 |
| OrphanetNr: | 3456 |
| OMIM Id: |
314600
|
| ICD-10: |
Q87.8 |
| UMLs: |
C0265239 |
| MeSH: |
C536706 |
| MedDRA: |
10069402 |
| Snomed: |
79665007 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
X-linked dominant inheritance [Omim] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Branchial arch or oral-acral syndrome
-Rare developmental defect during embryogenesis Dysostosis with predominant vertebral and costal involvement -Rare bone disease -Rare developmental defect during embryogenesis Genetic branchial arch or oral-acral syndrome -Rare genetic disease |
Symptom Information:
|
|
(HPO:0010628) | Facial palsy | Occasional [Orphanet] | 146 / 7739 | |||
|
|
(HPO:0000324) | Facial asymmetry | 57 / 7739 | ||||
|
|
(HPO:0002162) | Low posterior hairline | Occasional [Orphanet] | 88 / 7739 | |||
|
|
(HPO:0000470) | Short neck | Very frequent [Orphanet] | 345 / 7739 | |||
|
|
(HPO:0000465) | Webbed neck | Occasional [Orphanet] | 81 / 7739 | |||
|
|
(HPO:0011331) | Hemifacial atrophy | Occasional [Orphanet] | 79 / 7739 | |||
|
|
(HPO:0000538) | Pseudopapilledema | 4 / 7739 | ||||
|
|
(HPO:0001083) | Ectopia lentis | Occasional [Orphanet] | 45 / 7739 | |||
|
|
(HPO:0000384) | Preauricular skin tag | 62 / 7739 | ||||
|
|
(HPO:0000356) | Abnormality of the outer ear | 85 / 7739 | ||||
|
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
|
|
(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
|
|
(HPO:0012638) | Abnormality of nervous system physiology | Very frequent [Orphanet] | 12 / 7739 | |||
|
|
(HPO:0002949) | Fused cervical vertebrae | 13 / 7739 | ||||
|
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(HPO:0003422) | Vertebral segmentation defect | Very frequent [Orphanet] | 95 / 7739 | |||
|
|
(HPO:0002435) | Meningocele | Occasional [Orphanet] | 23 / 7739 | |||
|
|
(OMIM) | Klippel-Feil anomaly | 3 / 7739 | ||||
|
|
(OMIM) | Short, webbed neck | 3 / 7739 | ||||
|
|
(MedDRA:10013799) | Duane's syndrome | 2 / 7739 | ||||
|
|
(HPO:0012795) | Abnormality of the optic disc | Occasional [Orphanet] | 187 / 7739 | |||
|
|
(OMIM) | Sensorineural, conductive, or mixed hearing loss | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|