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Smith-Lemli-Opitz Syndrome Summary

Description: 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 Show All >>

Networked: 363 relevant articles (3 outcomes, 14 trials/studies) for this Disease

Key Drugs and Agents for Smith-Lemli-Opitz Syndrome

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Cholesterol : 1 outcome 8 studies in 246 results : IBA
  2. Dietary Cholesterol : 1 outcome in 7 results : IBA
  3. Simvastatin (Zocor) : 1 outcome in 5 results : FDA 20 Generic
  4. 7-dehydrocholesterol : 3 studies in 91 results : IBA
  5. cholesta-5,8-dien-3 beta-ol : 2 studies in 12 results : IBA
  6. 7-dehydrocholesterol reductase : 1 study in 49 results : IBA
  7. Oxidoreductases : 1 study in 44 results : IBA
  8. Sterols : 1 study in 20 results : IBA
  9. Dehydrocholesterols : 1 study in 4 results : IBA
  10. DNA (Deoxyribonucleic Acid) : 1 study in 2 results : IBA
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Diseases Related to Smith-Lemli-Opitz Syndrome

  1. Chondrodysplasia Punctata (Stippled Epiphyses)
  2. Pervasive Child Development Disorders
  3. Retinitis Pigmentosa (Pigmentary Retinopathy)
  4. Malaria
  5. Hereditary Elliptocytosis
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Key Therapies for Smith-Lemli-Opitz Syndrome

Efficacy Chart >>
  1. Airway Management : 2 results
  2. Gastrostomy : 2 results
  3. Laryngoscopes : 1 result
  4. Dental Care : 1 result
  5. Anesthesia : 1 result
Show All >>

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