How do I know if I have Smith-Lemli-Opitz Syndrome?

Smith-Lemli-Opitz Syndrome (SLOS) is a rare genetic disorder that affects the body's ability to produce cholesterol. It is caused by mutations in the DHCR7 gene, which is responsible for producing an enzyme called 7-dehydrocholesterol reductase. This enzyme plays a crucial role in the synthesis of cholesterol, a vital component of cell membranes and a precursor for various hormones and vitamins.

Diagnosing Smith-Lemli-Opitz Syndrome

Diagnosing SLOS typically involves a combination of clinical evaluation, biochemical testing, and genetic analysis. The symptoms of SLOS can vary widely, making it challenging to diagnose based on symptoms alone. However, there are several key features that may indicate the presence of the syndrome:

• Facial abnormalities: Infants with SLOS may have a distinctive facial appearance, including a small head, widely spaced eyes, a flat nasal bridge, and a small jaw.


• Growth and developmental delays: Children with SLOS often experience delays in physical growth, motor skills, and cognitive development.


• Intellectual disability: Individuals with SLOS may have varying degrees of intellectual disability, ranging from mild to severe.


• Behavioral issues: Some individuals with SLOS may exhibit behavioral problems, such as hyperactivity, aggression, or self-injurious behavior.


• Physical abnormalities: Other physical features associated with SLOS include extra fingers or toes, cleft palate, heart defects, and underdeveloped genitalia in males.

Confirming the diagnosis

If SLOS is suspected based on clinical evaluation, further testing is necessary to confirm the diagnosis. This typically involves measuring the levels of 7-dehydrocholesterol and cholesterol in the blood, as well as genetic testing to identify mutations in the DHCR7 gene.

Treatment and management

While there is no cure for SLOS, early intervention and management can help improve the quality of life for individuals with the syndrome. Treatment may involve a multidisciplinary approach, including medical specialists, therapists, and educators. The focus is on addressing specific symptoms and providing support tailored to the individual's needs.

In conclusion

Smith-Lemli-Opitz Syndrome is a rare genetic disorder that affects cholesterol synthesis in the body. Diagnosing SLOS involves a combination of clinical evaluation, biochemical testing, and genetic analysis. The presence of facial abnormalities, growth and developmental delays, intellectual disability, behavioral issues, and physical abnormalities may indicate the presence of SLOS. Confirming the diagnosis involves measuring cholesterol levels and genetic testing. While there is no cure, early intervention and management can help improve the individual's quality of life.