Living with Bardet-Biedl syndrome 6
A genetic condition that affects vision, weight, the hands and feet, the kidneys, and learning.
Understanding Bardet-Biedl syndrome 6
It can cause eye problems such as rod-cone dystrophy, in which light-sensitive cells in the retina break down and vision is lost. It also affects thinking and learning and body weight. In males it affects sex development, and in females the urinary and reproductive systems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Retina changes (pigmentary retinopathy)
- Obesity
- Extra fingers or toes (postaxial polydactyly)
- Intellectual disability
- Diabetes
- Opening of the urethra on the underside of the penis (hypospadias)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 Bardet-Biedl Syndrome Foundation & Family Association
- 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
It is autosomal recessive, so a child inherits a changed copy of a gene from each parent. GARD does not name a gene here.
Also known as: bardet-biedl syndrome type 6; bbs6
Patient organizations
- Bardet-Biedl Syndrome Foundation & Family AssociationBardet-Biedl syndrome 6 · United States
You are more than your diagnosis
Perspectives from people navigating life with Bardet-Biedl syndrome 6.
Explore research for Bardet-Biedl syndrome 6
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- Eligibility is confirmed by the study team
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