Wildervanck syndrome, also known as cervico-ocular-acoustic dysplasia, consists of the triad of:
congenital ossicular anomalies: usually diffuse ossicular ankylosis and sensorineural deafness
Duane syndrome: ocular motility disturbance and horizontal strabismus, secondary to congenital malformation of the abducens nerves and resultant lateral rectus hypoplasia/atrophy
Epidemiology
Wildervanck syndrome is inherited in an autosomal dominant fashion with incomplete penetrance and occurs ten times more commonly in girls than boys 4.
Associations
A large number of associations have been described, although it is contentious how many are actually causally linked:
short stature
brainstem hypoplasia
deformed external ears
inner ear anomalies
facial asymmetry
learning difficulties
cardiac anomalies
History and etymology
This condition is named after L S Wildervanck, Dutch human geneticist, who first described the condition in 1952 2.
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