Smith–Lemli–Opitz syndrome
| Smith–Lemli–Opitz syndrome | |
|---|---|
| Other names | SLOS, or 7-dehydrocholesterol reductase deficiency |
| Child with Smith-Lemli-Opitz syndrome | |
| Specialty | Medical genetics |
| Usual onset | Present at birth |
| Frequency | 1 in 20,000 to 1 in 60,000 |
Smith–Lemli–Opitz syndrome is an inborn error of cholesterol synthesis. It is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase encoded by the DHCR7 gene. It causes a broad spectrum of effects, ranging from mild intellectual disability and behavioural problems to lethal malformations.