Bardet-Biedl syndrome is a recessive multi-system genetic disorder that primarily affects vision, renal function, limb development, intelligence and growth.
Clinical features
many children born with BBS have obvious deformities at birth; these can include genital abnormalities, limb defects and classical facial features. The diagnosis of BBS is however, often delayed until other signs of the syndrome present. These include retinal degeneration in early childhood. Leaning difficulties, obesity at school age and, as the child passes through adolescence into adulthood, they may also develop progressive renal failure and fertility problems including primary amenorrhoea in females
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