branchio-oto-renal syndrome

(redirected from branchio-oto-renal dysplasia)
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branchio-oto-renal syndrome

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.

branchio-oto-renal syndrome

[brang′kē·ō·ō′tō·rē′nəl]
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.

branchio-oto-renal syndrome

An AD condition characterized by mixed hearing loss accompanied by a Mondini-type cochlear malformation, bilateral renal dysplasia with abnormalities of collecting ducts, and bilateral branchial clefts and/or cysts; BORS may be linked to breakpoint mutations on chromosome 8q
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