Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management

Smith-Lemli-Opitzsyndrome ( SLOS) is a malformation syndrome due to a deficiency of 7- dehydrocholesterol reductase ( DHCR7). DHCR7 primarily catalyzes the reduction of 7- dehydrocholesterol ( 7DHC) to cholesterol. In SLOS, this results in decreased cholesterol and increased 7DHC levels, both during embryonic development and after birth. The malformations found in SLOS may result from decreased cholesterol, increased 7DHC or a combination of these two factors. This review discusses the clinical aspects and diagnosis of SLOS, therapeutic interventions and the current understanding of pathophysiological processes involved in SLOS.