Canadian Medical Guide > Diseases > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Abnormalities > Abnormalities, Multiple > Smith-Lemli-Opitz Syndrome Terms and Definitions

Smith-Lemli-Opitz Syndrome

Medical Definition:	Autosomal recessive disorder characterized by multiple congenital anomalies including microcephaly, mental retardation, unusual facies, and genital abnormalities. The biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, resulting in abnormally high levels of 7-dehydrocholesterol and low levels of cholesterol.
Guide Notes:	an inborn error of lipid metab; the syndrome is named for the authors first describing it, the X ref RSH SYNDROME refers to the initials of the surnames of the first 3 patients
Also Called:	Smith-Lemli-Opitz Syndrome, Type I,Smith-Lemli-Opitz Syndrome, Type II
Previously Indexed:	Abnormalities, Multiple (1967-1995)

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