Estimated frequency: 1 in 40,000
Inheritance: autosomal dominant with high penetrance but variable expression
Mutated Gene: EYA1 on 8q13.3, possibly others
Characteristic clinical features:
(1) loss of hearing (may be sensorineural, conductive or mixed)
(2) malformations of the inner, middle and/or outer ear, including preauricular pits or tags
(3) cleft, sinus or cyst affecting the second branchial arch
(4) renal anomalies (agenesis, dysplasia, hypoplasia, minor defects)
Additional clinical findings may include:
(1) facial and/or dental abnormalities
(2) abnormalities of the palate
(3) lacrimal duct aplasia or stenosis
