How common is it to be a carrier of Smith Lemli Opitz syndrome?
Smith–Lemli–Opitz syndrome carrier frequency is highest in Ashkenazi Jews (1 in 43) and Northern Europeans (1 in 54). Comparing predicted birth incidence with that observed in published literature suggests that approximately 42% to 88% of affected conceptuses experience prenatal demise.
How many people carry the SLOS gene?
About 1 in 20,000 to 1 in 60,000 people in the US have SLOS. This condition affects males and females equally. However, females are less likely to be diagnosed because they do not have genital differences. SLOS occurs more often in people of European ancestry.
How do you test for SLOS?
How is SLOS diagnosed? The diagnosis may be suspected when a person has features commonly seen in SLOS. The diagnosis is confirmed by measuring the amount of 7-DHC enzyme in the blood. Testing can also be done by measuring cholesterol values from a blood sample.
How is SLOS treated?
While cholesterol supplementation and statin therapy are the most commonly studied treatments for SLOS, additional therapeutic maneuvers are being explored. These include antioxidants, prenatal cholesterol supplementation, and gene therapy.
Who are carriers of Smith Lemli Opitz syndrome?
Smith-Lemli-Opitz | RSH Syndrome Overview. Because it is recessive, a child will not have the symptoms of the disorder unless both parents pass on a defective copy of the DHCR7 gene. This can only happen if both parents are carriers. A carrier is a person who has one good copy and one mutated copy of the DHCR7 gene,…
What are the treatment options for Smith Lemli Opitz?
Current treatment options include: Cholesterol Supplementation: With the discovery that SLOS children cannot make adequate amounts of cholesterol, the most common form of treatment for SLOS currently involves dietary cholesterol supplementation.
Can a person with Smith Lemli Opitz live a normal life?
A person with Smith-Lemli-Opitz syndrome who has appropriate medical care and follows a proper diet has the potential for a normal life expectancy. Independent living is unlikely, however, due to the presence of intellectual disability.
How does egg yolk affect Smith Lemli Opitz syndrome?
J Med Genet 2000;37:321-335. Linck LM, Lin DS, Flavell D, et al. Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. Am J Med Genet 2000;93:363-365.