Living with Branchiogenic deafness syndrome
A rare syndrome described in one family, with neck cysts, ear differences, and hearing loss.
Understanding Branchiogenic deafness syndrome
It includes branchial cysts or fistulae, ear differences, hearing loss that can be conductive, sensorineural, or mixed, and a narrow inner ear canal. Other features include crossed eyes, jaw tightness (trismus), abnormal fifth fingers, patchy skin color loss, short stature, and mild learning disability. The kidneys are not affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss
- Neck cysts or small openings (branchial cyst or fistula)
- Ear differences and pits in front of the ear
- Cleft palate
- Crossed eyes (strabismus)
- Short fingertip bones
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, ear, nose, and throat specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: branchiogenic hearing loss syndrome; megarbane loiselet syndrome; mégarbané-loiselet syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Branchiogenic deafness syndrome.
Explore research for Branchiogenic deafness syndrome
Explore actively recruiting Branchiogenic deafness syndrome studies with HealthSpark.
Find actively recruiting studies for Branchiogenic deafness syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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