Background: \- Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder that prevents the body from making enough cholesterol. People who have SLOS often need to take extra cholesterol, either in food or in supplements, for their bodies to work properly. Cholesterol is very important for the brain and nervous system. Therefore SLOS is highly related to autism, mental retardation, and other brain and nervous system disorders. Not much is known about how people with SLOS handle cholesterol and how taking extra cholesterol helps them. A long-term study of people with SLOS will help answer these and other questions. Objectives: \- To study the effects of a high-cholesterol diet on people with Smith-Lemli-Opitz syndrome. Eligibility: \- Individuals of any age who have Smith-Lemli-Opitz syndrome. Design: * Participants will have study visits up to two times in the first year and once a year every year after that. Each visit will last between 3 and 5 days. * Participants will be screened with a physical exam, medical history, and blood and urine tests. * Participants will provide regular blood, urine, stool, saliva, and skin cell samples for testing. * Participants will keep track of the foods they eat at home. During the study, they will eat a high-cholesterol diet at all times, except for the second study visit (3 to 6 months after the screening visit). That visit will involve a cholesterol-free diet for 4 weeks. * Participants will have special cholesterol tests with blood samples at different times during the study. * At different study visits, participants will have tests of mental and physical skills (including tests for autism). They will answer questions about their diet and food habits. They will also have hearing and eye tests, body and bone measurements, and imaging studies. Not all of the tests will be done at every study. * Participants will be allowed to leave the study at any time.
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Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.