Smith Lemli Opitz Syndrome
Smith-Lemli-Opitz syndrome (SLOS) is a rare variable genetic disorder that is characterized by slow growth before and after birth, small head (microcephaly), mild to moderate intellectual disability and multiple birth defects. The severity of SLOS varies greatly in affected individuals, even in the same family. Some have typical development and only minor birth defects. SLOS is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase that results in an abnormality in cholesterol metabolism. SLOS is inherited as an autosomal recessive genetic disorder. The diagnosis of SLOS is based on physical findings and detection of an elevated concentration of 7-dehydrocholesterol (7-DHC) in blood serum or an elevated 7-dehydrocholesterol:cholesterol ratio. Molecular genetic testing for mutations in the DHCR7 gene is available and is mainly used for carrier testing and prenatal diagnosis. Medical treatment for SLOS is based on the specific problems that are present in the affected child.
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Ned A. Porter, Ph.D.
Stevenson Professor of Chemistry, Professor of Biochemistry
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