branchio-oto-renal syndrome(redirected from Bor 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.
Farlex Partner Medical Dictionary © Farlex 2012
branchio-oto-renal syndromeAn 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
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.