WP5234 - Bardet-Biedl syndrome - Homo sapiens

Bardet-Biedl Syndrome is a rare autosomal recessive genetic disorder. Most individuals carry mutations encoding for the intraflagellar transport complex, especially the BBSome complex and assembly or functional proteins within the primary cilium. These mutations lead to multisystemic ciliopathies, commonly characterized by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment, hypogonadotropic hypogonadism, genitourinary malformations, renal malformation and/or renal parenchymal disease. The syndrome has a prevalence of 1:125 000 to 1:160 000 in the Western hemisphere and a higher prevalence in isolated communities like Newfoundland 1:17 500 or Arabic regions 1:13 500 to 1:65 000 cases.