Bardet Biedl syndrome: A rare genetic disorder

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder. Clinical presentation of this rare condition may affect locomotive, neurological, cardio-vascular, endocrine and metabolic systems. Other noticeable features of the disorder are vision loss, obesity, polydactyly, kidney failure, hypogonadism and slow mental processing. We present the case of a Bardet-Biedl syndrome that appeared in the emergency room with seizures due to hypocalcaemia. Because of unusual body habitus and involvement of multiple body organ systems, a genetic diagnosis was sought. A web-based search was prompted as a resource to figure out rare clinical syndrome like BBS, and its further management particularly genetic counselling.