Kendall Barber
Professor Toalson
Audiology: CDS 457
24 April 2017
Disorder Paper Branchiotorenal syndrome (BOR) is a rare disorder causing an abundance of issues including; hearing loss, pre-auricular pits, pinnae malformation, external auditory canal stenosis, etc. BOR syndrome is a genetic condition that has an autosomal dominant pattern. A disease is considered an autosomal dominant condition when only one mutated gene copy per cell is required for an autosomal dominant disorder to affect someone, according to National Institutes of Health (NIH). The condition can be inherited by an affected parent or may be caused by a new genetic mutation in someone with no preexisting family history of the disorder (“Patterns of Inheritance”, 2017).…show more content… The impairment can be sensorineural, conductive, or mixed and ranges in severity (Coppage and Smith, 1995). A sensorineural hearing loss is defined as the loss of hearing produced by damage to the cochlea or the natural structures that lie beyond. Deformities in the inner ear, including problems with the semicircular canals, cochlea, and the auditory nerve can lead to sensorineural hearing loss (Coppage and Smith, 1995). The semicircular canals include three loops in the inner ear that are responsible for the sensation of turning (Martin, pg.449). The cochlea is part of the inner ear that transfers sound waves into an electrochemical signal that can be sent to the brain for interpretation (Martin, pg.441). Also, the auditory nerve is part of the cranial nerve that passes from the inner ear to the brain stem and serves to convert waves into a message (Martin,…show more content… Given the wide array of symptoms each individual with BOR syndrome might differ in expression of the mutation. To diagnose BOR syndrome an individual needs to display at least two of the following (if a family member has BOR syndrome) or three of the following (if the disorder is “new” and not present in a family
