Wildervanck syndrome

Wildervanck syndrome, also known as cervico-ocular-acoustic dysplasia, consists of the triad of:

• Klippel-Feil syndrome
• congenital ossicular anomalies: usually diffuse ossicular ankylosis and sensorineural deafness
• Duane syndrome: an ocular motility disturbance due to fibrosis of the extraocular muscles

Epidemiology

Wildervanck syndrome is inherited in an autosomal dominant fashion with incomplete penetrance and occurs ten times more commonly in girls than boys .

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
• cleft palate
• cardiac anomalies
• Dandy Walker syndrome

History and etymology

This condition is named after L S Wildervanck, Dutch human geneticist, who first described the condition in 1952 .

Siehe auch:

• Klippel-Feil-Syndrom
• congenital ossicular anomalies
• Duane-Syndrom

und weiter:

• Mondini-Dysplasie