Study of Heritable Connective Tissue Disorders

Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · Nov 3, 1999

Keywords

ClinConnect Summary

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...

Gender

ALL

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.