Bardet-Biedl Syndrome

Bardet-Biedl Syndrome (BBS) is a rare, recessively inherited complex disorder that involves many body systems.

The incidence is 1 in 100,000 births.

Primary features of Bardet Biedl Syndrome

  • Visual impairment, caused by rod-cone dystrophy, a progressive eye condition which is often diagnosed as Retinitis Pigmentosa
  • Impaired night-vision which can lead to tunnel vision, and ultimately blindness
  • Obesity in early childhood. Most often central obesity
  • Extra fingers and/or toes (polydactyly) and/or partially fused digits (syndactyly)
  • Kidney abnormalities, often leading to renal failure
  • Developmental delay, speech delay and learning difficulties
  • Underdeveloped genitals in males (hypogenitalism)

Impact of BBS

  • Complex syndrome, delayed diagnosis is common
  • No treatment for rod-cone dystrophy, correct early diagnosis vital for future development
  • Obesity is difficult to treat, lifelong commitment to healthy diet and exercise necessary
  • Extra digits surgically removed at young age - often with successful results
  • Learning difficulties and speech problems need early intervention for successful outcome

Find out more about Bardet-Biedl Syndrome

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