What is Branchio Oto Renal Syndrome – BOR?
(Symptoms, Causes & Treatment)
According to the U.S. National Library of Medicine, Branchio oto renal syndrome is a condition which disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family.
Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders).
Symptoms and signs of of branchio-oto-renal syndrome are consistent with underdeveloped or absent kidneys with resultant renal insufficiency or renal failure. Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears, or further malformation or absence of the outer ear. Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck.
The cause of branchio-oto-renal syndrome are due to mutations in genes, EYA1, SIX1, and SIX5.
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