Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management

Eur J Hum Genet. 2008 May;16(5):535-41. doi: 10.1038/ejhg.2008.10. Epub 2008 Feb 20.


Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome due to a deficiency of 7-dehydrocholesterol reductase (DHCR7). DHCR7 primarily catalyzes the reduction of 7-dehydrocholesterol (7DHC) to cholesterol. In SLOS, this results in decreased cholesterol and increased 7DHC levels, both during embryonic development and after birth. The malformations found in SLOS may result from decreased cholesterol, increased 7DHC or a combination of these two factors. This review discusses the clinical aspects and diagnosis of SLOS, therapeutic interventions and the current understanding of pathophysiological processes involved in SLOS.

Publication types

  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • Female
  • Genetic Counseling
  • Humans
  • Oxidoreductases Acting on CH-CH Group Donors / genetics
  • Phenotype
  • Prenatal Diagnosis
  • Smith-Lemli-Opitz Syndrome* / diagnosis
  • Smith-Lemli-Opitz Syndrome* / genetics
  • Smith-Lemli-Opitz Syndrome* / metabolism
  • Smith-Lemli-Opitz Syndrome* / therapy


  • Oxidoreductases Acting on CH-CH Group Donors
  • 7-dehydrocholesterol reductase