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Smith-Lemli-Opitz Syndrome

Definition

Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder characterized by multiple congenital malformations, intellectual disability, and developmental delays. It is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase, which leads to an abnormal synthesis of cholesterol and accumulation of its precursor, 7-dehydrocholesterol.