Wildervanck described the Cervico-Oculo-Acoustic Syndrome (COAS).
Inheritance: probably X-linked (affects primarily females; lethal in males)
Key features:
(1) Klippel-Feil anomaly (congenitally fused cervical vertebrae) with short neck
(2) congenital hearing loss (conduction, sensorineural or mixed;middle and/or inner ear anomalies
(3) Duane's retraction syndrome (abducens paralysis and retraction on adduction)
Variable findings:
(1) abnormal cerebellum
(2) Chiari malformation
(3) scoliosis
(4) short stature
(5) cleft palate
(6) hypertelorism
(7) malformed mandible with mild facial asymmetry
(8) low-set ears
(9) abnormal bony masses in the region of the mandibular rami
(10) low posterior hairline
(11) bifid uvula
