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Bardet-Biedl syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Bardet-Biedl syndrome

Bardet-Biedl syndrome is a complex genetic disorder affecting multiple body systems, characterized by variable signs and symptoms including progressive vision loss, obesity, polydactyly, intellectual disability, and kidney abnormalities.

Overview

Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.

Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of the eye () gradually deteriorates. Problems with night vision become apparent by mid-childhood, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood.

Obesity is another characteristic feature of Bardet-Biedl syndrome. Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life. Complications of obesity can include type 2 diabetes, high blood pressure (hypertension), and abnormally high cholesterol levels (hypercholester

Frequently Asked Questions

Vision loss in Bardet-Biedl syndrome is progressive, starting with night vision problems in mid-childhood and leading to legal blindness by adolescence or early adulthood due to retinal degeneration. While there is currently no cure for the vision loss, management focuses on support and adaptation. This includes regular ophthalmologic evaluations, low-vision aids, orientation and mobility training, and assistive technologies. Support groups and services for the visually impaired can also provide valuable resources and community.
Bardet-Biedl syndrome is a genetic disorder with an autosomal recessive inheritance pattern, meaning an individual must inherit two copies of a mutated gene (one from each parent) to be affected. Parents who are carriers typically do not show symptoms. Genetic counseling is highly recommended for affected individuals and their families. Counselors can explain the inheritance risks, discuss genetic testing options for diagnosis, carrier status, and prenatal or preimplantation genetic diagnosis, and provide support for family planning decisions.
Obesity is a characteristic feature of Bardet-Biedl syndrome, often beginning in early childhood. Effective management involves a multidisciplinary approach including dietary modifications, regular physical activity tailored to individual abilities, and behavioral therapy. Close monitoring for complications like type 2 diabetes, high blood pressure, and high cholesterol is essential, with early intervention and medication as needed. Working with a nutritionist and endocrinologist is often beneficial.
Kidney abnormalities are a significant feature of Bardet-Biedl syndrome and can range from structural defects to impaired kidney function, potentially leading to kidney failure. Common issues include cysts, abnormal kidney shape, and reduced filtering capacity. Regular monitoring of kidney function through blood and urine tests, as well as imaging studies (like ultrasound), is crucial. Management may involve medications to control blood pressure, dietary adjustments, and, in severe cases, dialysis or kidney transplantation.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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