Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder (autosomal recessive) caused by an
abnormality in the production of cholesterol. The disorder can occur in both a "mild" or
"severe" form. SLOS is associated with multiple birth defects and mental retardation. Some of
the birth defects include; abnormal facial features, poor muscle tone, poor growth, shortened
life span, and abnormalities of the heart, lungs, brain, gastrointestinal tract, limbs,
genitalia, and kidneys.
There is no known cure for SLOS but recently patients have been treated with increased
amounts of cholesterol in their diet. The cholesterol in a persons diet is unable to correct
the abnormalities in the patient's organs, but researchers hope it will improve growth
failure and mental retardation.
This study was developed to answer questions about the causes and complications of SLOS, as
well as the effectiveness of cholesterol treatment. The study will enroll patients diagnosed
with SLOS, and their mothers. The objectives of the study will be to address the following
Description: analyzing multiple tissues for cholesterol precursors and secondary analyses that correlate with disease severityMeasure: biochemical biomarkers Time: at every visit
There is one SNP
One SLOS mutant allele (R404C) appears to be present in individuals of French Canadian and Creole heritage. --- R404C ---