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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.

News & Events


ORDR Co-Sponsored Conferences

  • 2016 Rare Disease Day at NIH, Monday, February 29, 2016
    Location: Building 10, Masur Auditorium, National Institutes of Health, Bethesda, MD
    Description: The 2016 Rare Disease Day at NIH will take place on February 29. The event, sponsored by NCATS and the NIH Clinical Center, aims to raise awareness about rare diseases, the patients they affect and the research collaborations that are addressing rare disease challenges. The day will feature tours, posters and exhibits, and presentations.

  • Smith-Lemli Opitz and other Inborn Errors of Cholesterol Synthesis, Thursday, June 27, 2013 - Saturday, June 29, 2013
    Location: Embassy Suites-International Airport, Pittsburgh, PA
    Description: The goals of the meeting are to incorporate new investigators into the STAIR research community, form collaborations and cooperation’s among those investigators, continue the success of trainees in their academic career paths and research funding and productivity, and invest into cutting-edge research strategies to development therapeutic interventions for disorders of sterol and isoprenoid metabolism. The study of inborn errors of sterol metabolism provides a unique opportunity to study the role of cholesterol synthesis and homeostasis in more frequent multifactorial-based birth defects and neurological disturbances such as autism. The conference will provide a forum to tackle rare sterol related disorders and will also contribute to a better understanding of the pathogenesis of cholesterol-based diseases that affect millions of individuals world-wide such as atherosclerosis, hypertension, and autism.

  • Smith-Lemli-Opitz Syndrome and Inborn Errors of Cholesterol Synthesis, Wednesday, June 27, 2007 - Friday, June 29, 2007
    Location: Embassy Suites Hotel, Portland, OR
    Description: The goal of this meeting was to promote interactions between scientists with expertise in cholesterol homeostasis, brain cholesterol metabolism, embryonic development, and oxysterol and neurosteroid biology with clinician-scientists studying and treating patients with inborn errors of cholesterol synthesis. It was anticipated that these interactions would lead to collaborative projects that will ultimately improve our understanding and treatment of these genetic disorders.

  • Workshop on Smith-Lemli-Opitz Syndrome, Tuesday, September 26, 1995 - Wednesday, September 27, 1995
    Location: Bethesda, MD
    Description: The goals of this workshop were for participants to establish collaborative arrangements in pursuing their research interests and plan to establish a registry for Smith-Lemli-Opitz syndrome to facilitate research in the various aspects of this disease.

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.