Living with Bardet-Biedl syndrome 1
A genetic condition that affects vision, weight, the hands and feet, the kidneys, and learning.
Understanding Bardet-Biedl syndrome 1
It can cause worsening vision problems from damage to light-sensing cells in the eye, extra fingers or toes, weight gain around the middle, lower function of the male sex glands, kidney problems, and learning difficulties.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Reduced clarity of vision and night blindness
- Weight gain around the belly
- Extra fingers or toes (polydactyly)
- Intellectual disability and developmental delay
- Body does not respond well to insulin (diabetes)
- Nearsightedness (myopia)
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
Changes in certain genes cause the disease. It is autosomal recessive, so a child inherits a changed copy of a gene from each parent.
Also known as: bardet-biedl syndrome 1, modifier of; bardet-biedl syndrome type 1; bbs1
Patient organizations
- Bardet-Biedl Syndrome Foundation & Family AssociationBardet-Biedl syndrome 1 · United States
You are more than your diagnosis
Perspectives from people navigating life with Bardet-Biedl syndrome 1.
Explore research for Bardet-Biedl syndrome 1
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- Eligibility is confirmed by the study team
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