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Smith-Lemli-Opitz Syndrome
RSH-SLO Syndrome; Smith-Lemli-Opitz Syndrome, Type I; Smith-Lemli-Opitz Syndrome, Type II; RSH SLO Syndrome; RSH Syndromes; RSH-SLO Syndromes; Smith Lemli Opitz Syndrome; Smith Lemli Opitz Syndrome, Type I; Smith Lemli Opitz Syndrome, Type II
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.