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Smith-Lemli-Opitz Syndrome

An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and MENTAL RETARDATION.
Also Known As:
7-Dehydrocholesterol Reductase Deficiency; Lethal Acrodysgenital Syndrome; RSH-SLO Syndrome; Rutledge Friedman Harrod Syndrome; Rutledge Lethal Multiple Congenital Anomaly Syndrome; Smith Lemli Opitz syndrome, type 1; Smith-Lemli-Opitz Syndrome, Type 1; Smith-Lemli-Opitz Syndrome, Type 2; Smith-Lemli-Opitz Syndrome, Type I; Smith-Lemli-Opitz Syndrome, Type II; 7 Dehydrocholesterol Reductase Deficiency; 7-Dehydrocholesterol Reductase Deficiencies; Acrodysgenital Syndrome, Lethal; Acrodysgenital Syndromes, Lethal; Deficiencies, 7-Dehydrocholesterol Reductase; Deficiency, 7-Dehydrocholesterol Reductase; Lethal Acrodysgenital Syndromes; RSH SLO Syndrome; RSH-SLO Syndromes; Reductase Deficiencies, 7-Dehydrocholesterol; Reductase Deficiency, 7-Dehydrocholesterol; Smith Lemli Opitz Syndrome; Smith Lemli Opitz Syndrome, Type 2; Smith Lemli Opitz Syndrome, Type I; Smith Lemli Opitz Syndrome, Type II; Syndrome, Lethal Acrodysgenital
Networked: 363 relevant articles (3 outcomes, 14 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Chondrodysplasia Punctata (Stippled Epiphyses)
2. Pervasive Child Development Disorders
3. Retinitis Pigmentosa (Pigmentary Retinopathy)
4. Malaria
5. Hereditary Elliptocytosis

Experts

1. Porter, Forbes D: 29 articles (10/2013 - 04/2002)
2. Steiner, Robert D: 21 articles (10/2014 - 04/2002)
3. Porter, Ned A: 15 articles (06/2015 - 02/2010)
4. Wassif, Christopher A: 15 articles (11/2010 - 04/2002)
5. Xu, Libin: 14 articles (06/2015 - 02/2010)
6. Merkens, Louise S: 12 articles (10/2014 - 06/2004)
7. Korade, Zeljka: 11 articles (06/2015 - 12/2008)
8. Fliesler, Steven J: 11 articles (03/2013 - 02/2004)
9. Connor, William E: 11 articles (09/2012 - 04/2002)
10. Nowaczyk, Małgorzata J M: 9 articles (11/2012 - 02/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Smith-Lemli-Opitz Syndrome:
1. CholesterolIBA
2. Dietary CholesterolIBA
3. Simvastatin (Zocor)FDA LinkGeneric
4. 7-dehydrocholesterolIBA
5. cholesta-5,8-dien-3 beta-olIBA
6. 7-dehydrocholesterol reductaseIBA
7. OxidoreductasesIBA
8. SterolsIBA
9. DehydrocholesterolsIBA
10. DNA (Deoxyribonucleic Acid)IBA

Therapies and Procedures

1. Airway Management
2. Gastrostomy
3. Laryngoscopes
4. Dental Care
5. Anesthesia