Autosomal dominant malformative syndrome.

Synopsis

 cochlear malformation
 stapes fixation
 malformed pinnae
 preauricular pits
 Mondini malformation
 high arched palate
 cleft palate
 bifid uvula
 gustatory lacrimation
 branchial cleft fistulas or branchial cysts, usually bilateral
 renal anomalies

• renal dysplasia/renal agenesis (renal aplasia)
• renal collecting system anomalies
• polycystic kidneys

Etiology

 germline mutation in the EYA1 gene (MIM.601653) in branchiootorenal syndrome