Description

Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. Its prevalence in Europe is estimated at between 1/125,000 and 1/175,000. This disorder is characterized by a combination of clinical signs: obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities, many of which appear several years after disease onset. The wide clinical spectrum observed in BBS is associated with significant genetic heterogeneity. To date, mutations in 12 different genes (BBS1 to BBS12) have been identified as being responsible for this phenotype. These genes code for proteins involved in the development and function of primary cilia. Absence or dysfunction of BBS proteins results in ciliary anomalies in organs such as the kidney or eye.

External Information

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