Study of Heritable Connective Tissue Disorders
Connective Tissue Disease, Dissecting Aneurysm, Ehlers Danlos Syndrome
About this trial
This is an observational trial for Connective Tissue Disease focused on measuring Fibrillin, Collagen, Marfan Syndrome, Stickler Syndrome, Aortic Dissection, Ehlers-Danlos, Connective Tissue Disorders, Ehlers-Danlos Syndrome, Nail-Patella Syndrome
Eligibility Criteria
INCLUSION CRITERIA: Individuals and their family members will be offered enrollment if they have a suspected or established diagnosis of Marfan, Stickler, Ehlers-Danlos, or a closely related syndrome. Personal or family history of one or more of the following features in a pattern suggestive of a heritable connective tissue disorder: Marfanoid body habitus; Aortic dilatation and/or dissection; Ectopia lentis, detached retina, vitreous degeneration and/or early onset high myopia; Posterior cleft palate; joint laxity and/or dislocation; Premature osteoarthritis; Skin fragility, striae, easy bruisability and/or hyperextensibility; Pectus excavatum or carinatum; Scoliosis, spondylolisthesis, and/or dural ectasia; High frequency sensorineural hearing loss. EXCLUSION CRITERIA: Inability to provide informed consent.
Sites / Locations
- National Human Genome Research Institute (NHGRI)