Current as of December 03, 2023
We will investigate the clinical manifestations and molecular genetic defects of heritable connective tissue disorders, concentrating on the Marfan, Stickler, and Ehlers-Danlos syndromes. Although each of these conditions has been known for many years, the full spectrum of the associated phenotypes continues to be expanded and the genetic etiology of these conditions has not been completely elucidated. In addition, many patients have features overlapping two or more of the described syndromes, precluding unequivocal diagnosis. The goals of this study are to further define and characterize t...
- 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.
The National Institute of Allergy and Infectious Diseases (NIAID, /ˈnaɪ.æd/) is one of the 27 institutes and centers that make up the National Institutes of Health (NIH), an agency of the United States Department of Health and Human Services (HHS). NIAID's mission is to conduct basic and applied research to better understand, treat, and prevent infectious, immunologic, and allergic diseases.
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Bethesda, Maryland, United States
All reviews come from applied patients