Smith-Lemli-Opitz syndrome (SLOS) (MIM 270 400) is an autosomal recessive multiple congenital anomalies/mental retardation syndrome caused by mutations in the Delta7-sterol reductase (DHCR7, E.C.1.3.1.21) gene. The prevalence of SLOS has been estimated to range between 1:15000 and 1:60000 in populations of European origin.
Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University Innsbruck, Schoepfstrasse 41, 6020 Innsbruck, Austria. Witsch-Baumgartner@i-med.ac.at
