Wildervanck syndrome
(Redirected from Cervicooculoacoustic syndrome)
Alternate names[edit | edit source]
Cervico-oculo-acoustic syndrome; COA Syndrome; Cervico-oculo-acoustic dysplasia; Cervicooculoacoustic syndrome
Definition[edit | edit source]
Wildervanck syndrome is a condition that affects the bones in the neck, the eyes, and the ears.
Cause[edit | edit source]
- The exact cause of Wildervanck syndrome is not known.
- It is suspected to be a polygenic condition, meaning that many genetic factors may be involved.
- Environmental factors may also be involved, indicating that this condition may be due to many factors (multifactorial).
Inheritance[edit | edit source]
- Wildervanck syndrome does not have a clear pattern of inheritance.
- In most cases, only one person in a family is affected.
- These cases are called isolated or sporadic because there is no family history of Wildervanck syndrome.
- Because this syndrome occurs mostly in females, some researchers suggest that this condition may be transmitted as an X-linked dominant trait.
- The lack of males with Wildervanck syndrome suggests that affected males have more severe features and do not survive to birth.
Signs and symptoms[edit | edit source]
It is characterized by Klippel-Feil anomaly (in which the bones of the neck fuse together), Duane syndrome (an eye movement disorder), and hearing loss.
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Abducens palsy
- Congenital sensorineural hearing impairment
- Fused cervical vertebrae(Fused neck)
- Short neck(Decreased length of neck)
5%-29% of people have these symptoms
- Facial asymmetry(Asymmetry of face)
- Facial palsy(Bell's palsy)
- Lens subluxation(Partially dislocated lens)
- Low posterior hairline(Low hairline at back of neck)
- Meningocele
- Pseudopapilledema
- Webbed neck(Neck webbing)
Diagnosis[edit | edit source]
Treatment[edit | edit source]
Treatment is specific to each symptom and may include physical therapy, surgical intervention for skeletal, ocular, auditory, and cardiac abnormalities, and utilization of hearing aids.
NIH genetic and rare disease info[edit source]
Wildervanck syndrome is a rare disease.
Wildervanck syndrome Resources | |
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