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Diseases

Genetic and Rare Diseases Information Center (GARD)

Smith-Lemli-Opitz syndrome


Other Names for this Disease
  • Smith Lemli Opitz syndrome
  • SLO syndrome
  • 7-Dehydrocholesterol reductase deficiency
  • RSH syndrome
  • SLOS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Smith-Lemli-Opitz syndrome is a developmental disorder characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia may also occur. Smith-Lemli-Opitz syndrome is caused by mutations in the DHCR7 gene. It is inherited in an autosomal recessive pattern.[1]
Last updated: 3/13/2013

References

  1. Smith-Lemli-Opitz syndrome. Genetics Home Reference (GHR). 2007; http://www.ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome. Accessed 3/13/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Smith-Lemli-Opitz syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Smith-Lemli-Opitz syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Smith Lemli Opitz syndrome
  • SLO syndrome
  • 7-Dehydrocholesterol reductase deficiency
  • RSH syndrome
  • SLOS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.