- 7-Dehydrocholesterol reductase deficiency
- Lethal acrodysgenital syndrome
- Polydactyly, sex reversal, renal hypoplasia, and unilobular lung
- RSH syndrome
- Rutledge lethal multiple congenital anomaly syndrome
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ORDR Co-Sponsored Conferences
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.