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Diseases

Genetic and Rare Diseases Information Center (GARD)

Smith-Lemli-Opitz syndrome


Other Names for this Disease
  • 7-Dehydrocholesterol reductase deficiency
  • Lethal acrodysgenital syndrome
  • Polydactyly, sex reversal, renal hypoplasia, and unilobular lung
  • RSH syndrome
  • Rutledge lethal multiple congenital anomaly syndrome
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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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
  • 7-Dehydrocholesterol reductase deficiency
  • Lethal acrodysgenital syndrome
  • Polydactyly, sex reversal, renal hypoplasia, and unilobular lung
  • RSH syndrome
  • Rutledge lethal multiple congenital anomaly syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.