Overview
Branchiootic syndrome (BOS) is a rare inherited condition that affects the development of structures in the head and neck, as well as the ears. The name comes from 'branchio,' referring to the gill-like structures that form in a developing baby, and 'otic,' meaning related to the ear. It is sometimes called branchiootic syndrome type 1, 2, or 3 depending on the gene involved. BOS is closely related to branchiootorenal (BOR) syndrome, which is similar but also involves kidney problems — BOS does not typically affect the kidneys. People with BOS are usually born with small pits or skin tags near the ears or on the neck, and may have cysts or openings along the side of the neck called branchial fistulas or cysts. Hearing loss is one of the most important features of this condition and can range from mild to severe. The hearing loss may be caused by problems with the outer ear, middle ear, inner ear, or a combination of these. Treatment focuses on managing symptoms. Hearing loss can often be helped with hearing aids or, in some cases, cochlear implants. Neck cysts or pits may need surgical removal if they become infected or cause discomfort. With proper support, most people with BOS can lead full and active lives. Regular follow-up with specialists is important to monitor hearing and address any complications early.
Key symptoms:
Hearing loss (can be mild to severe)Small pits or holes in the skin near the ears (preauricular pits)Skin tags near the ears or on the neckCysts or openings along the side of the neck (branchial cysts or fistulas)Abnormally shaped outer ear (ear deformity)Narrow or absent ear canalProblems with the small bones inside the earInner ear abnormalities visible on imagingFluid drainage from neck openingsRecurrent infections in neck cysts
Clinical phenotype terms (16)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Branchiootic syndrome.
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Specialists
View all specialists →No specialists are currently listed for Branchiootic syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Branchiootic syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which gene is causing BOS in my family, and what does that mean for other relatives?,What type of hearing loss do I (or my child) have, and what is the best treatment option?,Should the neck cysts or pits be removed, and when is the right time to do that?,How often should hearing be tested, and what signs should prompt an earlier check?,Is there any risk of kidney problems, or is this definitely BOS and not BOR syndrome?,What educational or workplace accommodations might be helpful?,Are there clinical trials or new treatments I should know about?
Common questions about Branchiootic syndrome
What is Branchiootic syndrome?
Branchiootic syndrome (BOS) is a rare inherited condition that affects the development of structures in the head and neck, as well as the ears. The name comes from 'branchio,' referring to the gill-like structures that form in a developing baby, and 'otic,' meaning related to the ear. It is sometimes called branchiootic syndrome type 1, 2, or 3 depending on the gene involved. BOS is closely related to branchiootorenal (BOR) syndrome, which is similar but also involves kidney problems — BOS does not typically affect the kidneys. People with BOS are usually born with small pits or skin tags nea
How is Branchiootic syndrome inherited?
Branchiootic syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Branchiootic syndrome typically begin?
Typical onset of Branchiootic syndrome is neonatal. Age of onset can vary across affected individuals.