branchio-oto-renal syndrome

(redirected from Bor syndrome)

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

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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References in periodicals archive ?
The BOR syndrome can be distinguished from LADD syndrome by the presence of auricular pits and branchial fistulae and absence of dental and digital anomalies.
Congenital unilateral facial nerve palsy as an unusual presentation of BOR syndrome. Eur J Pediatr 2013 Feb;172(2):273-275.