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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