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Smith–Lemli–Opitz syndrome

Smith–Lemli–Opitz syndrome Smith–Lemli–Opitz syndrome is a rare inherited disorder caused by changes in the DHCR7 gene that disrupt cholesterol production.

Smith–Lemli–Opitz syndrome is a rare inherited disorder caused by changes in the DHCR7 gene that disrupt cholesterol production. It involves multiple congenital malformations such as facial differences, small head size, and fused fingers or toes, and behavioral abnormalities can also occur.