Smith-Lemli-Opitz Syndrome

M. Svoboda, E. Finanger, R. Steiner

Research output: Chapter in Book/Report/Conference proceedingChapter


Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive congenital malformation syndrome due to a defect in the enzyme 7-dehydrocholesterol reductase. This enzyme is critical in cholesterol biosynthesis, and the resulting defect causes decreased cholesterol production and an increase in the potentially toxic cholesterol precursors, 7- and 8-dehydrocholesterol. The clinical phenotype encompasses a wide spectrum. This article provides a brief overview of SLOS including clinical features, diagnosis, current therapy, and future potential therapies.

Original languageEnglish (US)
Title of host publicationEncyclopedia of the Neurological Sciences
PublisherElsevier Inc.
Number of pages5
ISBN (Electronic)9780123851574
ISBN (Print)9780123851581
StatePublished - Jan 1 2014


  • 7-Dehydrocholesterol
  • Autism
  • Cholesterol
  • Smith-Lemli-Opitz syndrome
  • Sterol disorders
  • Sterols

ASJC Scopus subject areas

  • Medicine(all)


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