Top 10 Things to Know About Smith-Lemli-Opitz Syndrome

In a recent video, Dr. Ellen Elias, a clinical geneticist specializing in neurodevelopmental disabilities and pediatrics provides a detailed exploration of Smith-Lemli-Opitz Syndrome (SLOS), covering its discovery, clinical manifestations, biochemical basis, diagnosis, management, challenges faced by patients and families, and ongoing research efforts in the field. Key points include:

1. Background and Discovery: Dr. Elias played a pivotal role in discovering the cause of Smith-Lemli-Opitz Syndrome, which involves a deficiency in the body’s ability to produce cholesterol.
2. Clinical Features and Symptoms: SLOS is characterized by distinct facial features, intellectual disability, abnormal genitalia, and poor growth. Diagnosis often involves identifying these features prenatally or at birth.
3. Biochemical Basis: The syndrome is linked to an enzyme defect in the final step of cholesterol synthesis, leading to very low cholesterol levels and high levels of specific precursors (7-DHC and 8-DHC).
4. Impact on Development: Cholesterol deficiency affects the Sonic Hedgehog gene, crucial for normal fetal development, leading to a range of organ and developmental issues.
5. Prevalence and Diagnosis: The condition is not as rare as initially thought, and diagnosis involves specialized testing for cholesterol and precursor levels, as well as genetic testing.
6. Clinical Presentation: Patients may present with distinct facial features, growth failure, and webbing of the second and third toes. A multidisciplinary approach is essential for proper diagnosis and management.
7. Treatment and Management: While there is no cure, patients are often given cholesterol supplements through various means, and ongoing research explores additional treatments, including antioxidants and bile acids.
8. Challenges and Support: Families of SLOS patients face numerous challenges due to the complexity of medical issues. A multidisciplinary approach involving various specialists and support groups is crucial for managing the condition effectively.
9. Genetic Counseling: SLOS follows an autosomal recessive pattern, and genetic counseling is essential for families to understand the recurrence risk and make informed decisions.
10. Ongoing Research: Research efforts, including clinical trials and studies, aim to further understand SLOS, improve treatments, and enhance the support available to affected individuals and their families.

Watch the video here or read the full transcript here.