Living with Bardet-Biedl syndrome
A genetic condition that affects vision, weight, the kidneys, the hands and feet, and learning.
Understanding Bardet-Biedl syndrome
Signs vary, even within a family. Vision loss is a major feature. The retina slowly breaks down, with night vision problems by mid-childhood, followed by blind spots and tunnel vision. Weight gain starts in early childhood. Many people also have extra fingers or toes, learning problems, and kidney differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Breakdown of the retina (retinal dystrophy)
- Night blindness and loss of side vision
- Weight gain starting in childhood (truncal obesity)
- Chronic kidney disease
- Lower sex hormone levels (hypogonadism)
- Learning difficulty and cognitive impairment
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, digestive system 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.
- 4Connect with expert centers
Foundation Fighting Blindness, Resolve: The National Infertility Association and Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Foundation Fighting Blindness, Resolve: The National Infertility Association, Pituitary Network Association
- 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 Foundation Fighting Blindness and other patient organizations
- 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 (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of a gene from each parent.
Also known as: bbs; biedl-bardet syndrome; lmbb - laurence-moon-bardet-biedl syndrome
Patient organizations
- Foundation Fighting BlindnessBardet-Biedl syndrome · United States
- Bardet-Biedl Syndrome Foundation & Family AssociationBardet-Biedl syndrome · United States
- Resolve: The National Infertility AssociationInfertility · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Bardet-Biedl syndrome.
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