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Diagnosing Bardet-Biedl syndrome (BBS)

A BBS diagnosis is based on four primary features, or it can be based on three primary features and two secondary features.

Primary features:

  • Obesity
  • Extra fingers/toes (polydactyly)
  • Abnormalities of urinary tract
  • Learning disabilities
  • Rod-cone dystrophy
  • Hypogonadism (which may include delayed puberty, genital abnormalities or abnormal endocrine testing of sexual hormones)

Secondary features:

  • Speech delay/difficulties
  • Strabismus, astigmatism, cataracts
  • Short fingers/toes
  • Developmental delay
  • Excessive thirst/urination
  • Awkward gait/imbalance
  • Spasticity
  • Diabetes mellitus
  • Dental crowding, high arched palate
  • Hepatic fibrosis
  • Congenital heart disease

 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