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Rare Diseases Blog

By Mary Kugler, R.N., About.com Guide to Rare Diseases since 2000

Smith-Lemli-Opitz Syndrome

Sunday June 6, 2004
This inherited metabolic disorder interrupts the synthesis of cholesterol in the body, resulting in too-low levels of cholesterol. Rather than being healthy, this leads to physical malformations, mental retardation, and behavior problems.

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