G08: Science Genetic Disorders: Smith Lemli Opitz Syndrome

Smith-Lemli-Opitz syndrome (SLOS) is a genetic condition that affects many parts of the body. It is an autosomal recessive genetic condition caused by changes in the DHCR7 gene. Problems associated with SLOS are usually noticeable before or shortly after birth (congenital). Common features of SLOS include slow growth, a small head (microcephaly) and mild to severe intellectual disability.

Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth restriction, microcephaly, moderate-to-severe intellectual disability, and multiple major and minor malformations.