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 INTELLECTUAL DISABILITY.

Also Known As:

7-Dehydrocholesterol Reductase Deficiency; Hyperotosis Corticalis Generalisata Familiaris; Lethal Acrodysgenital Syndrome; Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung; RSH Syndrome; RSH-SLO Syndrome; Rutledge Friedman Harrod Syndrome; Rutledge Lethal Multiple Congenital Anomaly Syndrome; SLO 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 Deficiencies; Acrodysgenital Syndrome, Lethal; Acrodysgenital Syndromes, Lethal; Deficiencies, 7-Dehydrocholesterol Reductase; Deficiency, 7-Dehydrocholesterol Reductase; Lethal Acrodysgenital Syndromes; RSH SLO Syndrome; RSH Syndromes; RSH-SLO Syndromes; Reductase Deficiencies, 7-Dehydrocholesterol; Reductase Deficiency, 7-Dehydrocholesterol; SLO Syndromes; 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; Syndrome, RSH; Syndrome, SLO; Syndromes, RSH; Syndromes, SLO

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Smith-Lemli-Opitz Syndrome: 482
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Steroid Metabolism: 2
      - Smith-Lemli-Opitz Syndrome: 482
    - Inborn Errors Lipid Metabolism
      - Smith-Lemli-Opitz Syndrome: 482
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Steroid Metabolism: 2
      - Smith-Lemli-Opitz Syndrome: 482
    - Inborn Errors Lipid Metabolism
      - Smith-Lemli-Opitz Syndrome: 482
  - Lipid Metabolism Disorders: 898
    - Dyslipidemias: 18198
      - Smith-Lemli-Opitz Syndrome: 482
    - Inborn Errors Lipid Metabolism
      - Smith-Lemli-Opitz Syndrome: 482

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