Diseases

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

Synonyms

35 entry terms
  • Hyperotosis Corticalis Generalisata Familiaris
  • Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung
  • RSH Syndrome
  • RSH-SLO Syndrome
  • SLO Syndrome
  • RSH SLO Syndrome
  • RSH Syndromes
  • RSH-SLO Syndromes
  • SLO Syndromes
  • Smith Lemli Opitz Syndrome
  • Syndrome, RSH
  • Syndrome, SLO
  • Syndromes, RSH
  • Syndromes, SLO
  • 7-Dehydrocholesterol Reductase Deficiency
  • Lethal Acrodysgenital 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 Deficiencies
  • Acrodysgenital Syndrome, Lethal
  • Acrodysgenital Syndromes, Lethal
  • Deficiencies, 7-Dehydrocholesterol Reductase
  • Deficiency, 7-Dehydrocholesterol Reductase
  • Lethal Acrodysgenital Syndromes
  • Reductase Deficiencies, 7-Dehydrocholesterol
  • Reductase Deficiency, 7-Dehydrocholesterol
  • Smith Lemli Opitz Syndrome, Type 2
  • Smith Lemli Opitz Syndrome, Type I
  • Smith Lemli Opitz Syndrome, Type II
  • Syndrome, Lethal Acrodysgenital

MeSH Record

Aspects Covered

33 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

1996

MeSH Record

Previous Indexing

  • Abnormalities, Multiple (1967-1995)

MeSH Hierarchy

Tree Numbers

  1. C16w.131w.077w.860w
  2. C16w.320w.565w.398w.850w
  3. C16w.320w.565w.925w.875w
  4. C18.452w.584w.500.937w
  5. C18.452w.584w.563w.850w
  6. C18.452w.648w.398w.850w
  7. C18.452w.648w.925w.875w

AMA Style

References

  1. National Library of Medicine. Smith-Lemli-Opitz Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D019082. http://id.nlm.nih.gov/mesh/2026/D019082
  2. Smith-Lemli-Opitz Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Smith%E2%80%93Lemli%E2%80%93Opitz_syndrome
  3. Smith-Lemli-Opitz Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q998273