Smith-Lemli-Opitz Syndrome (SLOS) is a rare genetic disorder characterized by impaired cholesterol synthesis. It is estimated to affect approximately 1 in every 20,000 to 60,000 births worldwide. SLOS is caused by mutations in the DHCR7 gene, leading to a deficiency in the enzyme responsible for cholesterol production. This syndrome can result in a wide range of physical and cognitive abnormalities, including intellectual disability, growth delays, distinctive facial features, and organ malformations. Early diagnosis and management are crucial for individuals with SLOS to optimize their quality of life.
Smith-Lemli-Opitz Syndrome (SLOS) is a rare genetic disorder characterized by impaired cholesterol synthesis. It is estimated to affect approximately 1 in every 20,000 to 60,000 live births worldwide, making it a relatively uncommon condition.
SLOS is caused by mutations in the DHCR7 gene, which is responsible for producing an enzyme involved in cholesterol production. The deficiency of this enzyme leads to a range of physical and developmental abnormalities.
The prevalence of SLOS varies among different populations and ethnicities. It is more commonly observed in individuals of European ancestry, particularly those with a northern European background. However, cases have been reported in various ethnic groups worldwide.
Due to its rarity, SLOS often goes undiagnosed or misdiagnosed, making it challenging to determine the exact prevalence. Early diagnosis and intervention are crucial for managing the symptoms and providing appropriate care for individuals with SLOS.