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

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