BOR syndrome is an autosomal dominant disorder that variably involves developmental defects of ear, brachial arches, and kidney. The disease is caused by mutations in two functionally related genes EYA1 and SIX5.
Incidence of BOR syndrome is estimates 1 in 40,000, which includes both forms wheras BOR1 holds the major share.[Error: Macro 'ref' doesn't exist]
Clinical presentation of BOR syndrome is variable. Hearing loss may be sensorineural, conductive, or mixed and is caused by outer, middle, or inner ear anomaly. Branchial fistulas or cysts can be present. Distubances in lacrimation may occur as a result of aberrant innervation. Renal dysplasias vary from normal to severe functional disturbances the manifest antenatally already by oligohydramnios.
Deafness | |
Branchiootorenal dysplasia deafness is of a mixed (conductive and sensorineural) type because of malformations (atresia to stenosis) of the external auditory canal and nderdeveloped cochlea and semicircular canals, respectively. |
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Orphanet article Orphanet ID 107 |
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Wikipedia article Wikipedia EN (Branchio-oto-renal_syndrome) |