Cervico-oculo-acoustic syndrome
=Cervico-oculo-acoustic Syndrome =
Cervico-oculo-acoustic syndrome, also known as Wildervanck syndrome, is a rare genetic disorder characterized by a triad of anomalies: Klippel-Feil syndrome, Duane retraction syndrome, and hearing loss. This condition primarily affects the cervical spine, eyes, and ears.
Clinical Features[edit | edit source]
Klippel-Feil Syndrome[edit | edit source]
Klippel-Feil syndrome is a congenital condition where there is a fusion of two or more cervical vertebrae. This can lead to a short neck, limited range of motion, and a low hairline at the back of the head.
Duane Retraction Syndrome[edit | edit source]
Duane retraction syndrome is a rare eye movement disorder. It is characterized by limited horizontal eye movement, where the affected eye retracts into the socket when attempting to look inward.
Hearing Loss[edit | edit source]
Hearing loss in cervico-oculo-acoustic syndrome can vary from mild to severe and may be conductive, sensorineural, or mixed. It is often due to malformations of the inner ear structures.
Genetics[edit | edit source]
The exact genetic cause of cervico-oculo-acoustic syndrome is not well understood. However, it is believed to be a sporadic condition, with some cases suggesting an autosomal dominant inheritance pattern. Genetic counseling may be beneficial for affected families.
Diagnosis[edit | edit source]
Diagnosis of cervico-oculo-acoustic syndrome is primarily clinical, based on the presence of the characteristic triad of symptoms. Imaging studies such as X-rays, CT scans, or MRIs can be used to assess vertebral anomalies, while audiometric tests evaluate hearing loss.
Management[edit | edit source]
Management of cervico-oculo-acoustic syndrome is symptomatic and supportive. It may involve:
- Orthopedic interventions for cervical spine issues.
- Ophthalmologic treatments for Duane retraction syndrome.
- Audiological support, including hearing aids or cochlear implants, for hearing loss.
Prognosis[edit | edit source]
The prognosis for individuals with cervico-oculo-acoustic syndrome varies depending on the severity of symptoms and associated complications. Early intervention and multidisciplinary care can improve quality of life.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Cervico-oculo-acoustic syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
