The Laurence-Moon
Bardet-Biedl
Association

 



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What is Bardet-Biedl Syndrome?




Bardet-Biedl syndrome is a complex disorder that involves many body systems.

Individuals with the disorder have retinal degeneration similar to that caused by retinitis pigmentosa and may have many other characteristic symptoms.
It is relatively rare, affecting approximately 1 in 100,000 babies. It is caused by a recessive inheritance pattern so there is a 1 in 4 chance with every pregnancy of passing on both defective genes to the child, resulting in BBS.

The cardinal features of Bardet Biedl syndrome are:

Visual impairment, caused by rod-cone dystrophy, a progressive eye condition which is often diagnosed as Retinitis Pigmentosa. It first shows itself as impaired night-vision and 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 (renal) abnormalities

Developmental delay, speech delay and learning difficulties

Underdeveloped genitals in males (hypogenitalism)

For more information about LMBBS you can download a booklet from the LMBBS Society HERE