This rare syndrome was first reported by L.S. Wildervanck, a Dutch physician, in 1952.
This syndrome, sometimes called cervicooculoacoustico syndrome, consists of three primary clinical features and several minor ones. The most consistent findings are congenital, perceptive deafness, eye movement problems, and a neck malformation known as Klippel-Feil anomaly. The latter is characterized by a low posterior hairline, short neck, and limited neck motion secondary to fusion of several vertebrae. Deafness is due to malformation of the bones of the middle ear. The eye movement disorder is known as Duane syndrome and is manifest by inability to move the eye(s) laterally, and a retraction of the eyeballs when they move toward the nose. Vision is not affected.
All three features can occur independently and may also be part of other syndromes.
Detailed studies have found some abnormalities in the spinal cord and brain but intelligence and motor functions are usually in the normal range.
There is no clear inheritance pattern in Wildervanck syndrome. Almost all cases are found in females leading some to suggest that a sex-linked dominant gene mutation with lethality in males is responsible. However, no single gene mutation has been found leading others to propose that multiple genes are responsible. Most cases occur sporadically.
The diagnosis can be made by ear, nose, and throat specialists or ophthalmologists. General health is usually good. No consistently beneficial treatments have been reported but cochlear implants might benefit hearing. Eye muscle surgery can improve head position in selected patients but does not restore eye movements to normal.