Learn About Smith-Lemli-Opitz Syndrome

What is the definition of Smith-Lemli-Opitz Syndrome?
Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition affecting multiple body systems. Signs and symptoms may include characteristic facial features, small head size, growth and developmental delays, and intellectual and behavioral problems. Individuals with SLOS have abnormally low levels of cholesterol in their blood and high levels of a chemical known as 7-dehydrocholestrol. The severity of symptoms varies from individual to individual. Many babies have feeding difficulties and growth issues. Some are born with heart, kidney, and adrenal problems. Most people with SLOS have some degree of intellectual and behavioral difficulties. This condition is caused by genetic changes (DNA variants) in the DHCR7 gene and is inherited in an autosomal recessive pattern. This condition is diagnosed based on the features and laboratory and genetic testing.
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What are the alternative names for Smith-Lemli-Opitz Syndrome?
  • Smith-Lemli-Opitz syndrome
  • 7-Dehydrocholesterol reductase deficiency
  • Lethal acrodysgenital syndrome
  • Polydactyly, sex reversal, renal hypoplasia, and unilobular lung
  • RSH syndrome
  • Rutledge lethal multiple congenital anomaly syndrome
  • SLO syndrome
  • SLOS
  • Smith Lemli Opitz syndrome
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What are the latest Smith-Lemli-Opitz Syndrome Clinical Trials?
Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)

Summary: Patients with biochemically confirmed SLOS are being treated with cholesterol supplementation and antioxidant medication. They are carefully monitored with visits to clinic, laboratory testing including cholesterol and 7-dehydrocholesterol levels, vitamin levels, blood counts and liver and kidney function. On a serial basis, no more often than once a year, the patients undergo a series of tests un...

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Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation

Summary: The purpose of this study is to determine whether dietary cholic acid therapy benefits people with Smith-Lemli-Opitz syndrome (SLOS) by leading to an increase in serum cholesterol and reduction in harmful cholesterol precursors. SLOS participants will be treated with dietary cholic acid for 8 weeks and serum cholesterol and cholesterol precursor metabolites will be measured.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Smith-Lemli-Opitz Syndrome?
Clinical features and genetic testing of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome.
Clinical and genetic analysis of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome.
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