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Bardet-Biedl syndrome

Background

Bardet-Biedl syndrome: BBS; Laurence-Moon-Bardet-Biedl syndrome

The syndrome is a rare inherited condition which is variable in the way in which it presents. Characteristics are: rod/cone dystrophy (atypical retinitis pigmentosa - a progressive eye condition which can lead to blindness (see entry Visual Impairment)); obesity (usually with an early onset and resistant to treatment); polydactyly (extra fingers and/or toes); hypogenitalism (underdeveloped genitals); mild to severe learning difficulties; and kidney malformations and renal dysfunction.

In the Middle-East and island communities such as Newfoundland, the condition is relatively common, occurring at rates of 1 in 13,500 of the population. In Europe and the UK the prevalence is much less common owing to lower consanguinity. The figure is probably between 1 in 70,000 to 100,000 of the population. Although BBS is not common it is certainly under diagnosed. As awareness of the condition increases, the number of people identified is growing every year. 

How is it diagnosed? View How is it diagnosed?

Medical text written January 1996 by Dr P L. Beales. Last updated October 2005 by Professor P L. Beales, Professor of Medical and Molecular Genetics, Wellcome Trust Senior Research Fellow in Clinical Science, Consultant in Clinical Genetics, Molecular Medicine Unit, Institute of Child Health, London, UK.

 

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