Friday Facts! Branchiootorenal Syndrome

Welcome to Friday Facts! here on the Knowlege Safari blog. Each week we aim to shine the spotlight on a different segment of special needs in order to raise awareness and provide information. This weeks's topic, Branchiootorenal (BOR) Syndrome was brought to our attention by Sara Ceney who advocates for her nephew James, who was diagnosed 48 hours after his birth. You can read about their journey here.

To read a family's account of this syndrome - The Cain Foundation.

Taken from the U.S. National Medical Library,

What is Branchiootorenal Syndrome?

Branchiootorenal (BOR) syndrome is a genetic condition that typically disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition can vary, however.

"Branchio-" refers to the second branchial arch, which is a structure in the developing embryo that gives rise to tissues in the front and side of the neck. In people with branchiootorenal syndrome, abnormal development of the second branchial arch can result in the formation of masses in the neck called branchial cleft cysts. In some people, abnormal connections called fistulae form passages between these cysts and the surface of the neck. Fistulae can also develop between the skin of the neck and the throat, near the tonsils. Branchial cleft cysts and fistulae can cause medical problems if they become infected.

"Oto-" refers to the ear; most people with branchiootorenal syndrome have hearing loss and other ear abnormalities. The hearing loss is known as sensorineural deafness if it is caused by changes in the inner ear, and conductive deafness if it is caused by changes in the middle ear. Branchiootorenal syndrome can also involve hearing loss that results from changes in both the inner ear and the middle ear, which is called mixed hearing loss. Other ear abnormalities associated with branchiootorenal syndrome include malformations of the inner ear or middle ear and abnormally shaped outer ears (pinnae). Some affected people also have tiny holes in the skin (preauricular pits) or small flaps of skin (preauricular tags) just in front of the ear.

"Renal" refers to the kidneys; branchiootorenal syndrome causes abnormalities of kidney structure and function. These abnormalities range from mild to severe and can affect one or both kidneys. In some cases, end-stage renal disease (ESRD) develops later in life. This serious condition occurs when the kidneys become unable to filter fluids and waste products from the body effectively.

How common is branchiootorenal syndrome?
Researchers estimate that branchiootorenal syndrome affects about 1 in 40,000 people.

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