Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook

The Bardet Biedl syndrome (BBS) is a rare inherited disorder considered a model of non-motile ciliopathy. It is in fact caused by mutations of genes encoding for proteins mainly localized to the base of the cilium. Clinical features of BBS patients are widely shared with patients suffering from other ciliopathies, especially autosomal recessive syndromic disorders; moreover, mutations in cilia-related genes can cause different clinical ciliopathy entities. Besides the best-known clinical features, as retinal degeneration, learning disabilities, polydactyly, obesity and renal defects, several additional clinical signs have been reported in BBS, expanding our understanding of the complexity of its clinical spectrum. The present review aims to describe the current knowledge of BBS i) pathophysiology, ii) clinical manifestations, highlighting both the most common and the less described features, iii) current and future perspective for treatment.

Automated summary

The Bardet Biedl syndrome (BBS) is a rare inherited disorder caused by mutations in genes encoding for proteins mainly localized at the base of the cilium. It shares clinical features with other ciliopathies and mutations in cilia-related genes can cause different clinical ciliopathy entities. In addition to the well-known clinical features, several additional clinical signs have been reported in BBS, expanding our understanding of its complexity.