Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disease initially reported by Bardet and Biedl in the 1920s.BBS is a pleiotropic and genetically heterogeneous disorder characterized by retinopathy,obesity,polydactyly,renal malformations and functional abnormalities,learning disabilities and hypogenitalism.BBS patients are also prone to diabetes mellitus,hypertension and congenital heart disease.To date,16 BBS genes (BBS1-BBS16)have been identified.However,the molecular etiology of BBS is not yet entirely clear.In this article,we have reviewed recent research on BBS and discussed its implications for understanding of ciliopathology.