Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome is an inborn error of cholesterol synthesis. It is inherited in an autosomal recessive pattern and is classed as a multiple malformation syndrome, meaning that a single underlying defect produces several physical differences at once. The cause is a mutation in the gene DHCR7, which encodes the enzyme 7-dehydrocholesterol reductase, a step in the body's manufacture of cholesterol. The effects vary widely between individuals, from mild intellectual disability and behavioural problems at the gentler end to malformations that are lethal at the severe end. The condition is recorded here as a description of what the medical literature holds, not as medical advice.