What is Bardet-Biedl Syndrome?
Bardet-Biedl Syndrome is a rare, recessively inherited ciliopathy which affects approximately 1 in 100,000 babies born.
Features of the syndrome include rod-cone dystrophy, a progressive eye disorder that leads to blindness, characterised by tunnel vision and night blindness; obesity; renal abnormalities; developmental delay; speech and language difficulties; extra fingers and/or toes and learning difficulties. The variability in presentation and severity of the syndrome together with the rarity of the condition can lead to delayed diagnosis and a lack of adequate local health care. There are around 560 affected individuals known to us in the UK.
There is at present no cure for Bardet-Biedl Syndrome. Patients have access to NHS specialised multi-disciplinary clinics held in four centres in London and Birmingham. Bardet-Biedl Syndrome UK are third-sector partners in this service.
Beales et al (1999 and 2001) suggest that the presence of four primary features or three primary features plus two secondary features is necessary for a clinical diagnosis of Bardet-Biedl Syndrome.
Not all of the features are always present in those diagnosed as having BBS and each one can vary in severity and appearance.
For more information see the BBS UK Medical Information Booklet
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