What is Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz Syndrome (SLOS) is a rare genetic disorder characterized by impaired cholesterol synthesis in the body. It is caused by mutations in the DHCR7 gene, which is responsible for producing an enzyme involved in cholesterol production. This syndrome affects various aspects of development and can lead to a wide range of physical, cognitive, and behavioral symptoms.

Individuals with SLOS may exhibit distinctive facial features, such as a small head, widely spaced eyes, and a flattened bridge of the nose. They may also experience growth and developmental delays, intellectual disabilities, and behavioral problems. Additionally, affected individuals often have malformations of organs, including the heart, lungs, and genitals.

Diagnosis of SLOS is typically confirmed through genetic testing, which identifies the specific DHCR7 gene mutations. While there is no cure for SLOS, treatment focuses on managing the symptoms and providing supportive care. This may involve cholesterol supplementation, physical and occupational therapy, and early intervention programs to address developmental delays.

Due to the complex nature of Smith-Lemli-Opitz Syndrome, a multidisciplinary approach involving various healthcare professionals is often necessary to provide comprehensive care and support for individuals with this condition.