BARDET–BIEDL SYNDROME

Abstract

Bardet-Biedl syndrome is a rare, pleiotropic congenital malformation syndrome comprising rod-cone dystrophy, postaxial polydactyly, truncal obesity, learning disability, hypogenitalism, and renal disease. It is an important diagnostic consideration in syndromes with progressive visual impairment or with overgrowth. In the last few years, isolation of seven of the causative genes in this heterogeneous syndrome and the elucidation of possible complex patterns of inheritance have resulted in an increased awareness of Bardet-Biedl syndrome in the medical and scientific community. Keywords: Bardet-Biedl syndrome; retinal dystrophy; obesity/obesity syndromes; polydactyly; hypogenitalism; renal cystic disease; complex inheritance; triallelic inheritance