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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 INTELLECTUAL DISABILITY.

Year introduced: 1996

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Tree Number(s): C16.131.077.860, C16.320.565.398.850, C16.320.565.925.875, C18.452.584.500.937, C18.452.584.563.850, C18.452.648.398.850, C18.452.648.925.875

MeSH Unique ID: D019082

Entry Terms:

  • Smith Lemli Opitz Syndrome
  • SLO Syndrome
  • SLO Syndromes
  • Syndrome, SLO
  • Syndromes, SLO
  • Hyperotosis Corticalis Generalisata Familiaris
  • RSH Syndrome
  • RSH Syndromes
  • Syndrome, RSH
  • Syndromes, RSH
  • RSH-SLO Syndrome
  • RSH SLO Syndrome
  • RSH-SLO Syndromes
  • Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung
  • Smith-Lemli-Opitz Syndrome, Type II
  • Smith Lemli Opitz Syndrome, Type II
  • Rutledge Lethal Multiple Congenital Anomaly Syndrome
  • Rutledge Friedman Harrod Syndrome
  • Smith-Lemli-Opitz Syndrome, Type 2
  • Smith Lemli Opitz Syndrome, Type 2
  • Lethal Acrodysgenital Syndrome
  • Acrodysgenital Syndrome, Lethal
  • Acrodysgenital Syndromes, Lethal
  • Lethal Acrodysgenital Syndromes
  • Syndrome, Lethal Acrodysgenital
  • 7-Dehydrocholesterol Reductase Deficiency
  • 7-Dehydrocholesterol Reductase Deficiencies
  • Deficiencies, 7-Dehydrocholesterol Reductase
  • Deficiency, 7-Dehydrocholesterol Reductase
  • Reductase Deficiencies, 7-Dehydrocholesterol
  • Reductase Deficiency, 7-Dehydrocholesterol
  • Smith-Lemli-Opitz Syndrome, Type I
  • Smith Lemli Opitz Syndrome, Type I
  • Smith-Lemli-Opitz Syndrome, Type 1
  • Smith Lemli Opitz syndrome, type 1

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