Branchio-Oto-Renal Syndrome
| Definition: |
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 & Eponymic Diseases, 2d ed) |
| Notes: |
multiple abnorm; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; DF: note short X ref |
| Also Called: |
Branchio-Oculo-Facial Syndrome |
| Previously Indexed: |
Abnormalities, Multiple (1966-1996),Chromosome Abnormalities (1966-1996) |
Branchio-Oto-Renal Syndrome Definitions and Terms
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