Branchiootorenal syndrome

Disease Overview

Branchiootorenal syndrome is characterized by birth defects or anomalies of tissues in the neck, malformations of the external ear, hearing loss, and kidney malformations. Symptom and symptom severity can vary greatly from person to person. It can be caused by mutations in the EYA1, SIX1, or SIX5 genes.[1902][1903][1904][1905][1906] It is passed through families in an autosomal dominant fashion. Treatment may include surgery to remove the anomalies of the neck (i.e., branchial fistulae or cysts), careful assessment and management of hearing loss, and follow-up by a kidney specialist (nephrologist). In some cases dialysis or kidney transplant may be required.[1903][1905]

Synonyms

• Branchiootorenal dysplasia
• Melnick-Fraser syndrome
• Branchio oto renal syndrome
• BOR syndrome