The Wildervanck syndrome: cervico-oculo-acoustic dysplasia.
The Wildervanck syndrome consists of the Klippel-Feil deformity of the spine, eyeball retraction, lateral gaze weakness, and hearing loss. Conductive hearing loss, as well as a more frequently occurring sensorineural hearing loss, is caused by dysplasia of the inner ear. Typically, polytomograms demonstrate a bulbous vestibule and dilated lateral semicircular canals with basilar impression of the skull. The Duane's eyeball retraction phenomenon completes the syndrome; this may be explained either by misdirected innervation of the extraocular muscles or by atrophy or fibrosis of the lateral rectus muscles.
D000015:Abnormalities, Multiple; D000328:Adult; D007758:Ear, Inner / Q000002:abnormalities*; D005124:Eye Abnormalities; D005260:Female; D034381:Hearing Loss / Q000175:diagnosis*; D006314:Hearing Loss, Conductive / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D009334:Neck Muscles / Q000002:abnormalities; D009801:Oculomotor Muscles / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome