Wilderwanka Syndrome

Wildervank syndrome (also known as cervico-oculo-acoustic syndrome) is a rare congenital disorder characterized by developmental abnormalities of the neck, eyes and ears.

This disease was first described in 1954 by the Dutch geneticist L.S. Wildervanck, after which it was named.

The main clinical manifestations of Wildervanck syndrome:

1. Neck abnormalities - short, wide neck with limited mobility due to fusion of the cervical vertebrae.

2. Eye abnormalities - strabismus, ptosis (drooping of the upper eyelid), optic nerve defects.

3. Hearing abnormalities - varying degrees of hearing loss due to defects in the ear canal and middle ear.

4. Delayed psychomotor and speech development.

The causes of Wildervank syndrome are not completely clear. It is assumed that its development is associated with mutations in several genes responsible for the embryonic development of the neck, eyes and ears.

This disease is extremely rare, more often in boys. The exact prevalence is unknown.

Diagnosis is based on the clinical picture and imaging data (X-ray, CT, MRI). Treatment is mainly symptomatic and includes surgical correction of abnormalities and drug therapy.

The prognosis for Wildervank syndrome varies depending on the severity of developmental anomalies. With adequate medical care, patients can have a normal life expectancy.