Danielle Mercer1, Fern Tsien2, and Barbara Gordon-Wendt1
1 Department of Communication Disorders, LSUHSC School of Allied Health Professions
2 Department of Genetics, LSUHSC School of Medicine
Branchio-oto-renal syndrome affects about 1 in 40,000 people. It is passed on in an autosomal dominant fashion. The name “branchio-oto-renal” describes the three areas of the body where abnormalities are seen: the neck, ears, and kidneys. The branchial arches, which form parts of the neck, do not form properly. This can cause cysts or fistulae in the neck. (A fistula is a passageway between two structures that should not be there.) Deformities of the ear and hearing loss are seen in branchio-oto-renal syndrome. Abnormalities may affect the outer, middle, or inner ear. As a result, any of the types of hearing loss (conductive, sensorineural, or mixed) could be seen. It is common to see a misshapen outer ear, or pits or tags on the outer ear. Pits are small holes in the skin, while tags are small flaps of skin. Finally, renal (or kidney) anomalies are seen. These can be problems in structure or function, and they can range from mild to severe disease. One or both kidneys can be affected. For some patients, end-stage renal disease (ESRD) occurs later in life.
Branchio-oto-renal syndrome signs and symptoms:
- Neck cysts or fistulae
- Preauricular pits (outer ear pits)
- Preauricular tags (outer ear tags)
- Malformed or misshapen ears
- Middle or inner ear structural defects
- Defects in kidney structure or function
- Hearing loss of any type
It is estimated about 2% of the profoundly deaf have branchio-oto-renal syndrome.
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Preauricular ear tag
Courtesy of Jack Yu, M.D.