branchio-oto-renal syndrome

(redirected from branchio-oto-renal dysplasia)

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.
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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
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
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The renal dysplasia-associated syndromes include Meckel syndrome, VATER association, renal coloboma syndrome, Herlyn-Werner-Wunderlich syndrome, prune belly syndrome, branchio-oto-renal dysplasia, renal-hepatic-pancreatic dysplasia, and multiple endocrine neoplasia type 2A.