BARDET–BIEDL SYNDROME

Bardet–Biedl syndrome is a rare, pleiotropic congenital malformation syndrome with a well-characterized phenotype 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 and/or polydactyly. The isolation of more than 21 genes, including ciliopathy genes, that can cause Bardet–Biedl syndrome establishes this condition as highly heterogeneous and have resulted in an increased awareness of Bardet–Biedl syndrome in the medical and scientific community.