Bardet Biedl Syndrome (BBS) Care

Home Conditions and Diseases Comprehensive Bardet Biedl Care
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Why choose us

  • Comprehensive multispecialty expertise: Our clinic brings together specialists who understand BBS to provide coordinated evaluations and personalized recommendations for each patient and family
  • Pediatric and adult care: Tailored pathways for children and adults, including ophthalmology, nephrology, endocrinology, neurology, genetics, nutrition, behavioral health, therapies and more
  • Clear take home plan: You’ll receive a complete summary binder and recommendations after your visit to guide ongoing local care
  • Ongoing support: Opportunities to connect with other families during clinic weeks and via support groups

What to expect

Most clinics run three to four days with scheduled breaks. Many clinics host a family dinner or connection opportunities to meet others in the BBS community. Clinics can vary slightly by age as outlined below.

Pediatric clinic may include:

  • Cardiology
  • Child psychology
  • Dental
  • Dermatology
  • Endocrinology
  • Gastroenterology
  • Medical genetics
  • Nephrology
  • Neurology
  • Neuropsychology
  • Nutrition
  • Occupational and physical therapy
  • Ophthalmology
  • Otolaryngology (ENT)
  • Physical medicine and rehabilitation
  • Speech and audiology
  • Sleep medicine

Adult clinic may include:

  • Cardiology
  • Cental
  • Dermatology
  • Endocrinology
  • Gastroenterology
  • Gynecology
  • Medical genetics
  • Nephrology
  • Neurology and sleep
  • Neuropsychology
  • Nutrition
  • Occupational and physical therapy
  • Ophthalmology
  • Community resources

On your last day a BBS team member reviews findings and answers questions. You’ll receive a binder with provider notes, recommendations, and contact information. You will also receive copies of notes and imaging; these are also shared with your primary care provider. Follow-ups are typically annual or biannual

Research and community resources

  • CRIBBS registry: The Clinical Registry Investigating Bardet Biedl Syndrome is the largest worldwide registry studying long-term outcomes in BBS, join or learn more at bbs-registry.org
  • BBS family association: Dedicated to improving the lives of individuals and families affected by BBS
  • Support groups: Marshfield sponsors support groups for parents and adults with BBS. Additional groups and activities, including a community book club, are expanding
  • Additional resources: Genetic testing and more are available on our site, including lab partners such as Prevention Genetics, Invitae and Athena Diagnostics, and national organizations supporting vision and education

Patient stories

Mikyla

Mikyla Mobley

Hello everyone my name is Mikyla Mobley. I was diagnosed with BBS when I was about 15. I had already been diagnosed with retinitis pigmentosa (RP) when I was 13.

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Reed

Reed Smith

We received Reed’s official BBS diagnosis at 10 months old. Our feelings about Reed’s diagnosis began with disbelief and denial, then progressed into guilt, worry, despair, envy, jealousy and then more guilt.

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Ellyn

Ellyn Hunter

We define ourselves in the roles we have. I am a wife, mom, grandma, sister and a psychotherapist. I live in Madison, Wisconsin with my husband, Jim. We have been married for 32 years.

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Kristina with a dog

Kristina Constant

I am 35 and have Bardet-Biedl syndrome. I live alone and work in Boston as a legislative aide for a state representative. I help constituents with issues, answer emails, work with state agencies and answer phones for the representative.

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Frequently asked questions

What is Bardet Biedl syndrome?

A rare, inherited disorder present from birth affecting many body systems, including vision, metabolism, kidney, endocrine, and neurocognitive function. 

How is BBS diagnosed?

Clinicians use established criteria that includes either four primary features or three primary plus two secondary features observed over time.  

Can I self refer?

Yes. Call (715) 389-3235 or submit the referral questionnaire to begin.

Will my insurance cover the clinic?

Marshfield contracts with many plans and will work with your insurer on prior authorization if needed.

What specialties will I see?

Depending on age and needs, visits include coordinated appointments across ophthalmology, nephrology, endocrinology, cardiology, neurology and sleep, genetics, nutrition, therapies and more.

What happens after the clinic?

You’ll receive a summary binder, provider notes, imaging, and a personalized care plan; we recommend annual or biannual follow-ups.

Expert, coordinated care for children and adults

Marshfield Clinic offers comprehensive evaluations and individualized treatment recommendations through our dedicated multispecialty BBS clinic. Patients can self-refer and we work with your insurance to help ensure coverage.


How to schedule (self-referral welcome) 

Who we care for

  • Children and teens: With suspected or confirmed BBS, especially when vision changes, extra digits at birth, growth or endocrine concerns, or learning differences are present
  • Adults: With BBS who need coordinated follow up for eye health, kidney function, metabolic care, sleep, cardiovascular screening and everyday support

Signs and features of BBS

BBS varies from person to person. Diagnosis is based on clinical features seen over time: 

  • Primary features may include: Obesity, polydactyly (extra fingers or toes), urinary tract abnormalities, learning disabilities, cone-rod dystrophy and hypogonadism
  • Secondary features may include: Speech delay, strabismus, astigmatism, cataracts, short fingers or toes, developmental delay, excessive thirst and urination, gait imbalance and spasticity, diabetes, dental crowding and high palate, hepatic fibrosis and congenital heart disease