Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome (SLOS) is an inherited disease characterized by multiple birth defects and intellectual and developmental disabilities. Symptoms of SLOS are attributed to the body’s inability to produce cholesterol due to a deficiency of an enzyme called 7-dehydrocholesterol reductase (7-DHC). In pregnancy, cholesterol production is essential for normal development of a baby since it is a component of most cells and is used in the production of certain hormones and digestive acids. View testing options