Bardet-Biedl Syndrome (BBS) is also a rare autosomal recessive disorder, but exhibits significant genetic heterogeneity with 20 associated genes identified to date [3] The most common gene mutated in BBS is BBS1, located on chromosome 11q13, which accounts for approximately 25 % of BBS cases [4]. The gene discussed is BBS1; the disease is Bardet-Biedl syndrome.