branchio-oto-renal syndrome(redirected from branchio-oto-renal dysplasia)
an autosomal dominant disorder manifested by branchial cysts, preauricular skin tags or sinuses, ear anomalies, and kidney malformations; caused by mutation in the EYA1 gene on 8q.
Etymology: Gk, branchia, gills + ous, ear + L, ren, kidney
branchial arch anomalies (preauricular pits, branchial fistulas or pits) associated with congenital deafness resulting from dysgenesis of the organ of Corti, and with renal dysplasia. It is inherited as an autosomal-dominant trait with high penetrance and variable expression.