"Smith-Lemli-Opitz syndrome (SLOS) also known as 7-dehydrocholesterol reductase deficiency or RSH syndrome, is an inborn error of cholesterol synthesis."
"The condition often results from a mutation in the DHCR7 gene on chromosome 11q12-13 which reduces the activity of 7-dehydrocholesterol reductase. Rarely there may be a mutation in chromosome 7q32.1. There is then a lack of cholesterol production as well as a build-up of potentially toxic byproducts of cholesterol production which accumulate in the blood and other tissues. It was traditionally classified into two types although they are not considered to represent the spectrum differing severity."
Expected headings
"Associations"
"There are many symptoms and signs which include:"
"The condition often results from a mutation in the DHCR7 gene on chromosome 11q12-13 which reduces the activity of 7-dehydrocholesterol reductase. Rarely there may be a mutation in chromosome 7q32.1. There is then a lack of cholesterol production as well as a build-up of potentially toxic byproducts of cholesterol production which accumulate in the blood and other tissues. It was traditionally classified into two types although they are not considered to represent the spectrum differing severity."