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Smith-Lemli-Opitz syndrome

Background

Smith-Lemli-Opitz syndrome (SLOS) is a congenital syndrome that was first described in 1964. It is due to deficiency of the enzyme called 7-dehydrocholesterol reductase (DHCR7). The estimated incidence of SLOS is between 1 in 20,000 to 1 in 40,000 live births, but may be higher.

What are the symptoms? View What are the symptoms?

Medical text written July 2003 by Contact a Family. Approved July 2003 by Dr J Tolmie, Consultant Clinical Geneticist, Ferguson-Smith Centre for Clinical Genetics, Glasgow, UK. Last updated July 2011 by Germaine Pierre, Paediatric Metabolic Consultant, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.

 

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