Bardet-Biedl syndrome presented as chronic kidney disease with rare clinical associations in a Sudanese woman (case report)

Abstract: Bardet–Biedl syndrome is a rare autosomal recessive disorder falls under the spectrum of ciliopathy disorders. Its characterized by rod-cone dystrophy, renal malformations, postaxial polydactyly, learning difficulties, central obesity and hypogonadism. Hyponatremia, hepatic haemangioma, gall bladder stones and subclinical hypothyroidism rarely described in the literature as clinical presentations in BBS.