Branchiootorenal syndrome
Definition
Branchiootorenal (BOR) syndrome is an autosomal dominant condition characterized by ear abnormalities, hearing loss, cysts in the neck, and kidney problems.
Description
The name branciootorenal syndrome describes the body systems most commonly affected by this genetic disorder. The term "branchio" refers to the abnormalities of the neck found in individuals with this syndrome. Cysts (lump or swelling that can be filled with fluid) and fistulas (abnormal passage from the throat to the skin) in the neck occur frequently. The term "oto" refers to the ear disorders associated with the syndrome. For example, the outer ear can be unusual in appearance. Hearing loss is also common. Finally, the term "renal" stands for the kidney problems commonly seen in patients with this condition....
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