Smith-Lemli-Opitz syndrome

Overview

What is Smith-Lemli-Opitz syndrome?

Smith-Lemli-Opitz (SLO) syndrome is a rare metabolic disease. It was named for the 3 doctors who first identified the disease in patients, back in 1964: David Smith, Luc Lemli, and John Opitz.

People with SLO have a problem making cholesterol. They are missing an enzyme (called 7-dehydrocholesterol reductase) that helps our bodies synthesize or make cholesterol.

While you may have heard that too much cholesterol is bad for you, our bodies need cholesterol to grow properly both before and after birth. Because cholesterol is an important component in our cells and brains, SLO affects many parts of the body.

People with SLO typically have distinct facial features, poor growth, and developmental delays and/or mental retardation. They can also have physical malformations such as abnormally small heads, webbing between the 2nd and 3rd toes, small or abnormal genitalia in males, and problems with their organs, particularly the heart, eyes, and/or kidneys. The symptoms of SLO will be different in each person, depending on how much cholesterol their body makes. To learn more, visit: Smith-Lemli-Opitz.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/smith-lemli-opitz-syndrome/overview/4438 • DATE UPDATED: 2016-06-24

References

"Smith-Lemli-Opiz syndrome" Genetics Home Reference U.S National Library of Medicine. U.S. National Library of Medicine. Web. 3 March. 2016. https://ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome#synonyms

"Smith-Lemli-Opitz: Overview". Medscape Web. 5 March 2016. http://emedicine.medscape.com/article/949125-overview

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