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Genetic and Rare Diseases Information Center (GARD)

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Smith-Lemli-Opitz syndrome type 1

Other Names for this Disease
  • 7-Dehydrocholesterol reductase deficiency
  • RSH syndrome
  • SLO syndrome type 1
  • SLOS
  • Smith Lemli Opitz syndrome type 1
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Your Question

How rare is Smith-Lemli-Opitz syndrome? What is the life expectancy for a person with this condition?

Our Answer

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How rare is Smith-Lemli-Opitz syndrome?

Smith-Lemli-Opitz syndrome affects an estimated 1 in 20,000 to 60,000 newborns. This condition is most common in Caucasians (whites) of European ancestry, particularly people from Central European countries such as Slovakia and the Czech Republic. It is very rare among African and Asian populations.[1]
Last updated: 3/13/2013

What is the life expectancy for a person with Smith-Lemli-Opitz syndrome?

A person with Smith-Lemli-Opitz syndrome who has appropriate medical care and follows a proper diet has the potential for a normal life expectancy. Independent living is unlikely, however, due to the presence of intellectual disability. Children with the most severe cases of Smith-Lemli-Opitz syndrome (those who produce little or no cholesterol) often die within a few months of birth.[2]
Last updated: 3/13/2013