Smith-Lemli-Opitz syndrome (SLOS) is a variable genetic disorder caused by the way one produce cholesterol in our bodies.
Cholesterol is a major component of cell membranes and helps form myelin, a substance which protects brain cells (neurons).
It also plays a significant role in proper digestion.
This condition cause a lack of cholesterol production and as a result it also allows toxic byproducts of cholesterol to build up within the body, which hinders development and growth in multiple bodily systems
The severity of SLOS varies greatly in affected individuals, even in the same family, and some have normal development and only minor birth defects.
Deficiency in the enzyme 7-dehydrocholesterol reductase that results in an abnormality in cholesterol metabolism.
It is an inherited as an autosomal recessive genetic disorder.
Family history autosomal recessive disorder (Both parents who are carriers of the recessive genes responsible and can cause a 25% chance of their sibling getting this condition)
If both parents are carriers, a child has a 25 percent chance of inheriting two recessive genes (and getting this condition), a 50 percent chance of getting one dominant and one recessive gene (and becoming a carrier), and a 25 percent chance of getting two dominant genes (and remaining unaffected).
All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.
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Detailed Information
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