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branchio-oto-renal syndrome


Definition: 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.

Synonym(s): BOR syndrome, branchio-oto-renal dysplasia

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.