LAURENCE-MOON-BARDET-BIEDL SYNDROME: A CASE REPORT Case Report
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Abstract
Laurence-Moon-Bardet-Beidl Syndrome (LMBBS) is a rare autosomal recessive multisystem disorder as a result of defect in genes encoding for ciliary proteins. It is one of the well-studied conditions in the family of disease caused by abnormal cilia collectively known as ciliopathies. LMBBS is characterized by rod-cone dystrophy, learning difficulties, polydactyly, obesity, genital malformations and renal abnormalities. The multiorgan effects and wide range of genes and mutation types mean that a number of different genetic therapeutic modalities must be considered. Additionally non genetic pharmacological interventions and non-pharmacological approaches should be considered to optimize management of LMBBS.
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