Mesh term Branchio-Oto-Renal Syndrome
Browse to parent terms:Abnormalities, Multiple
Chromosome Disorders
Description
An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)Search for this term in our Faculty Database
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