Branchio-Oto-Renal Syndrome (Branchio Oculo Facial Syndrome) Summary

20 relevant articles (0 outcomes, 0 trials/studies) found for this Disease

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 & Eponymic Diseases, 2d ed)

Also Known As: Branchio Oculo Facial Syndrome; Syndrome, BOR; BOR Syndrome; Branchio-Otorenal Syndrome; BOR Syndromes Show All >>

Key Drugs and Agents for Branchio-Oto-Renal Syndrome

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Drugs and Important Biological Agents (IBA) related to treatments:

Nonsense Codon (Nonsense Mutation) : 2 results : IBA
DNA (Deoxyribonucleic Acid) : 2 results : IBA
1,2-cyclohexanediamine (dach) : 2 results : IBA
Silk : 1 result : IBA
Electron Transport Complex I (NADH-CoQ Reductase) : 1 result : IBA
GTP-Binding Proteins (G-Protein) : 1 result : IBA
Protein Tyrosine Phosphatases : 1 result : IBA
Transcription Factors (Transcription Factor) : 1 result : IBA
Genetic Markers (Genetic Marker) : 1 result : IBA
Cytosine : 1 result : IBA

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Diseases Related to Branchio-Oto-Renal Syndrome

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Key Therapies for Branchio-Oto-Renal Syndrome

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