Branchiootorenal Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Branchiootorenal Syndrome?
An otolaryngologist, an ear, nose, and throat doctor, treats the hearing problems and neck growths. A nephrologist, a kidney doctor, watches kidney function. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Branchiootorenal Syndrome?
Branchiootorenal syndrome, also called BOR syndrome or Melnick-Fraser syndrome, is a rare genetic condition. It disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The name breaks down like this: branchio refers to the branchial arch, a structure in the developing embryo that forms tissues in the front and side of the neck. Oto refers to the ear. Renal refers to the kidneys.
Signs and symptoms vary widely. They differ even among members of the same family. A related condition called branchiootic syndrome has many of the same features. But it does not affect the kidneys. Researchers estimate that BOR syndrome affects about 1 in 40,000 people.
Symptoms
Common features include:
- Hearing loss and other ear abnormalities. The hearing loss can be sensorineural, meaning it comes from the inner ear; conductive, meaning it comes from the small bones in the middle ear; or mixed, meaning both.
- Branchial cleft cysts, which are masses in the neck. Some people have abnormal holes or pits called fistulae in the side of the neck just above the collarbone.
- Tiny holes in the skin or extra bits of tissue just in front of the ear. These are called preauricular pits and preauricular tags.
- Kidney abnormalities, which range from mild to severe and can affect one or both kidneys.
In some cases, kidney problems progress to end-stage renal disease later in life. This means the kidneys can no longer filter fluids and waste from the body.
Causes and who gets it
BOR syndrome is caused by mutations in the EYA1, SIX1, or SIX5 genes. About 40 percent of people have a mutation in the EYA1 gene. These genes give instructions for proteins that regulate gene activity during development before birth. When they do not work, the branchial arch, ears, and kidneys do not form properly.
The condition is inherited in an autosomal dominant pattern. This means one copy of the altered gene is enough to cause the disorder. In about 90 percent of cases, an affected person inherits the mutation from an affected parent. Other cases come from new mutations in people with no family history.
How doctors diagnose it
Doctors look at the pattern of ear, neck, and kidney findings. They also take a family history. Hearing tests, called audiometry, measure hearing loss. Imaging of the temporal bone can show ear defects. The temporal bone is the part of the skull that holds the ear structures. Kidney problems are checked with urinalysis, a urine test. Doctors also use kidney function blood tests and ultrasound. A genetic test for EYA1, SIX1, or SIX5 mutations can confirm the diagnosis.
Treatment
There is no cure, so treatment focuses on each symptom. Patients may benefit from hearing aids. Surgery may help when the shape of the ear is defective. Branchial cleft cysts can get infected easily, so they are often removed. Antibiotics can treat an infected cyst. A nephrologist closely monitors any kidney impairment. Severe kidney problems may need dialysis or a kidney transplant. Regular hearing tests and kidney checkups track the condition over time. Genetic counseling is recommended for patients and their families.
When to see a doctor
Get medical attention right away for any ear infection, because ear inflammation needs fast treatment. See a doctor promptly for a new mass or pit in the neck that becomes red, painful, or swollen, since these can get infected. Also see a doctor for changes in urination, swelling in the legs, or other signs of kidney problems. Kidney function can worsen without warning, so keep your checkups.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either type can follow your hearing and kidney health over time, coordinate referrals to the ear and kidney specialists, and keep your long-term care on schedule.
Common questions
How common is Branchiootorenal Syndrome?
Researchers estimate it affects about 1 in 40,000 people. It affects males and females in equal numbers. It is found in about 2 to 3 percent of children with profound deafness.
Can Branchiootorenal Syndrome be prevented?
No. It is a condition you inherit through your genes. Genetic counseling can help families understand the chance of passing it on. It can also help with family planning decisions.
Will my kidneys fail?
Not always. Kidney problems range from mild to severe. In some cases, end-stage renal disease develops later in life. But regular kidney monitoring helps doctors catch problems early and treat them.
What causes the neck growths?
The second branchial arch, a structure in the developing embryo, forms tissues in the front and side of the neck. When it develops abnormally, it can form branchial cleft cysts, which are masses in the neck, or fistulae, which are small holes or tunnels.
Sources
- MedlinePlus Genetics - Branchiootorenal/branchiootic syndrome
- NORD - Branchiootorenal Spectrum Disorders
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
