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Bardet-Biedl syndrome (BBS): A rare genetic disease

MCHS Bardet-Biedl syndrome header

​​​​​​​​​​​​​​Bardet-Biedl syndrome (BBS) is a rare genetic disorder present from birth that affects many parts of the body.

Marshfield Clinic Health System is the only health system in the nation that provides comprehensive care for patients with BBS.

BBS affects almost every organ system, and its diagnosis is based on different features of BBS such as:

  • Impaired vision
  • Obesity
  • Problems affecting urinary and genital organ function
  • Chronic kidney disease
  • Extra fingers and toes
  • Problems with language, thinking, judgment and memory
  • Endocrine disorders that may affect growth and development, metabolism, sexual function, reproduction and mood

BBS affects less than 3,000 individuals in the U.S. Because it is so rare, BBS may not be recognized early. This may delay the start of treatment and support for at-risk families.

BBS is inherited in an autosomal recessive manner (both parents passing on one BBS gene to their child) and evolves slowly throughout the first decade of life, although there is a lot of variability.

Those with BBS should have:

  • Regular ophthalmology evaluations
  • Regular monitoring of renal, liver, glucose, lipid and endocrine profiles
  • Regular weight and blood pressure measurements

BBS multispecialty clinic

A multispecialty clinic for children and adults with BBS is offered at the Health System. There is no other clinic in the U.S. providing comprehensive, clinical evaluations and individualized treatment care recommendations for BBS.

Patients are able to self-refer to the clinic and we work with your insurance provider to ensure the visit is covered. Families travel from around the world to participate in this clinic, which also includes opportunities to network with other families.

Learn more about our BBS multispecialty clinic >

Clinical Registry Investigating Bardet-Biedl Syndrome

The Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) is the largest worldwide registry examining the long-term health of individuals with BBS. The mission of CRIBBS is to promote research that will improve the health and quality of life of individuals affected by BBS.

The research team at Marshfield Clinic Research Institute collects health information of individuals with BBS so it can be used in many scientific endeavors. The success of CRIBBS reflects the time, energy and vision of individuals with BBS, caregivers, families, therapists, doctors and scientists. CRIBBS serves as a valuable tool to learn about BBS and its impact on the health of a person.

BBS Family Association

This nonprofit association is dedicated to improving the lives of individuals and families affected by BBS. The mission is to provide a community of support for individuals and families; information about BBS; and promote science and research to improve the lives of individuals with BBS. 

Learn more about the BBS Family Association >

Donations can help to ensure that programs like the BBS clinic remain strong.​

 From Their View

Patients share their​​​​ experiences with BBS.

 BBS Blog Post

Image of child playing with building blocks

Rare disease clinic offers hope for patients with Bardet-Biedl syndrome

Bardet-Biedl syndrome is a rare genetic disease that affects about 3,000 people in the U.S. Read more

BBS Blog Post Right Rail