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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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.

Treatment

Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • Action Medical Research is a British medical research charity that funds research into rare diseases affecting children. This group has funded over¬†¬£100 million in research projects. Click on the link to access information about their research into Smith-Lemli-Opitz syndrome.
  • ClinicalTrials.gov lists trials that are studying or have studied Smith-Lemli-Opitz syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
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.