RSH (so-called Smith-Lemli-Opitz) syndrome

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Abstract
Now known as a Garrodian inborn error caused by the homozygous state of many different autosomal recessive mutations of the 7-dehydrocholestrol reductase gene leading to deficient conversion of 7-dehydrochotesterol to cholesterol, the RSH (so-called Smith-Lemli-Opitz) syndrome has become a paradigmatic metabolic malformation syndrome in a pathway that also involves cause and pathogenesis of desmosterolosis, two forms of the Conradi-Hünermann-Happle type chondodys-plasia punctata and its mouse homologs, and the Greenberg “moth-eaten” skeletal dysplasia and the CHILD syndrome. Many other defects in this pathway remain to be discovered.