The Smith-Lemli-Opitz syndrome

Richard I. Kelley, Raoul C.M. Hennekam

Research output: Contribution to journalReview articlepeer-review


The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for affected patients. Rloreover, the recent recognition of the important role of cholesterol in vertebrate embryogenesis, especially with regard to the hedgehog embryonic signalling pathway and its effects on the expression of homeobox genes, has provided an explanation for the abnormal morphogenesis in the syndrome. The well known role of cholesterol in the formation of steroid hormones has also provided a possible explanation for the abnormal behavioural characteristics of SLOS.

Original languageEnglish (US)
Pages (from-to)321-335
Number of pages15
JournalJournal of medical genetics
Issue number5
StatePublished - 2000
Externally publishedYes


  • 7-Dehydrocholesterol reductase
  • Cholesterol metabolism
  • Clinical history
  • Management
  • Smith-Lemli-Opitz syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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