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​​​​​​​​​​​​​​​​​​​​Bardet-Biedl syndrome (BBS)

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

Common features of BBS include:​

  • 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 2,500 individua​ls in the United States. 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 specialty care at Marshfield Clinic 

Multispecialty three to four-day clinics, for children and adults with BBS, are available at Marshfield Clinic. These clinics take an innovative approach to improving care for people with BBS and are the only comprehensive treatment services for BBS in North America. Our providers understand BBS and are interested in meeting the needs of patients and families it affects

Pediatric BBS clinics may include:

  • Child psychology
  • Community resources
  • Medical genetics
  • Neuropsychology
  • Nutrition
  • Occupational and physical therapy
  • Otolaryngology (Ear-Nose-Throat)
  • Pediatric cardiology
  • Pediatric endocrinology
  • Pediatric gastroenterology
  • Pediatric nephrology
  • Pediatric neurology
  • Pediatric ophthalmology
  • Pediatric physical medicine and rehabilitation
  • Pediatric speech pathology and audiology
  • Sleep medicine
  • Speech therapy
Adult BBS clinics may include:
  • Cardiology
  • Community resources
  • Endocrinology​
  • Gynecology
  • Medical genetics
  • Nephrology
  • Neurology and sleep medicine
  • Neuropsychology
  • Nutrition
  • Occupational and physical therapy
  • Ophthalmology

Emphasis is on a team approach to address the needs of patients and families. A consult to identify community resources also is provided.

Following the clinic, a comprehensive care plan and recommendations are provided to the patient’s health care provider. A BBS clinic nurse coordinator provides ongoing support. An annual evaluation and follow-up is recommended.

Patients may self-refer to the BBS clinic. Marshfield Clinic contracts with many insurance plans and networks. Check with your employer or insurance company to see if you have access to health care services at Marshfield Clinic.

For more information or to make a referral​​ to the Bardet-Biedl syndrome clinic at Marshfield Clinic Marshfield Medical Center, call 715-387-5033​.

Additional resources and information​

Medical genetic testing providers for BBS include: 

Prevention Genetics, Marshfield, Wis.

Invitae, San Francisco, Calif.

Casey Eye Institute, Oregon Health and Science University, Portland

Athena Diagnostics, Worchester, Mass.

Bardet-Biedl Syndrome Family Association

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

Clinical Registry for Investigating Bardet-Biedl Syndrome

We are working with the National Institutes of Health to study the long-term health of people with BBS. This collaboration includes family support advocates, clinicians and scientists dedicated to improving the treatment of BBS. To help research efforts, we encourage BBS patients and families to participate in the national registry.

Support BBS specialty care

Donations can help to ensure that programs like the BBS clinic remain strong. Learn how your gift can benefit this program.​