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