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BBS is named after Georges Bardet and Arthur Biedl. The first known case was reported by Laurence and Moon in 1866. Laurence-Moon-Biedl-Bardet syndrome (LMBBS) is no longer considered as a valid term as patients of Laurence and Moon had paraplegia but no polydactyly and obesity, which are the key elements of the BBS. Hence, Laurence– Moon syndrome is usually considered as a separate entity. However, some recent research suggests that the two conditions may not be distinct. Bardet-Biedl syndrome (BBS) is a rare ciliopathic autosomal recessive disorder.1 The prevalence of BBS varies markedly between populations from 1:160000 in northern European to 1:13500 and 1:175000 respectively in isolated communities in Kuwait and Newfoundland, where a higher level of consanguinity prevails.2,3 BBS is part of a group of human genetic disorders of cilia function, and mutations of 17 genes are reported to be responsible for more than 80% of clinically diagnosed cases.4 Cilia are cellular structures of two classes: motile and immotile. Motile cilia generate movement of fluid. Defects of motile cilia can be manifested in the form of bronchiectasis and infertility. On the other hand, immotile cilia function as sensory organelles and their defects are characterized clinically by retinitis pigmentosa, polydactyly, situs inversus, learning difficulties and cystic formation in kidneys, liver and pancreas. BBS is a disorder of immotile cilia.2

Bardet-Biedl Syndrome: A Rare Report of two Sibling Affected and Third Sibling with Multiple Anomalies