This study is currently recruiting participants.
National Institute of Child Health and Human Development (NICHD)
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: N/A Max Age: N/A
Referral Letter Required
Inborn Error of Cholesterol Synthesis; Cholesterol; Lysosomal Storage; Natural History
Inborn Errors of Cholesterol Synthesis; Smith-Lemli-Optiz Syndrome; Lathosterolosis; Desmosterols; CHILD Syndrome; Greenberg Dysplasia; X Linked Dominant Chrondrodysplasia
Lysosomal Storage Disease; cholesterol metabolism
National Institute of Child Health and Human Development
People with an inborn error of cholesterol synthesis and related disorders, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia, CHILD syndrome, Greenberg dysplasia, and some cases of Antley-Bixler syndrome, may be eligible for this study. People who are carriers of the disorders also may enroll.
Participants and family members will provide blood and urine samples, as well as other tissue samples collected during medically indicated procedures such as biopsy or surgery. These tissues may include, for example, gallstones, cataracts, cerebrospinal fluid, amniotic fluid, lymph tissue, and DNA samples. In rare instances, a skin biopsy may be requested to aid in establishing a diagnosis.
Medical information will also be gathered from medical records, photographs, and X-rays.
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INCLUSION CRITERIA: Subjects will be eligible for this study if they have or are suspected to have an inborn error of cholesterol synthesis or if they are related to a proband with a suspected inborn error of cholesterol synthesis. No exclusions will be made based on gender, ethnicity or age.
Subjects will be eligible for this study if they have or are suspected to have an inborn error of cholesterol synthesis or if they are related to a proband with a suspected inborn error of cholesterol synthesis. No exclusions will be made based on gender, ethnicity or age.
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