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branchio-oto-renal syndrome |
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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 How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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In the latter case, hearing loss can be caused by conditions such as osteogenesis imperfecta, branchio-oto-renal syndrome, orofaciodigital type II syndrome, and Treacher Collins syndrome. |
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