A connective tissue disorder is one that involves defects in the supporting structures of the body, such as skin, bone, cartilage, ligaments, blood vessels and organ coverings. When these tissues are weakened by mutant genes, diagnosis and medical or surgical treatment can be of great benefit.

Common genetic tissue disorders include Marfan's syndrome, osteogenesis imperfecta (brittle bone disease), Ehlers-Danlos syndromes, mitral valve prolapse and various bone dysplasias that result in short stature. As with most disorders, the earlier a diagnosis is made the better. Possible associated problems with the eyes (lens dislocation), heart (mitral valve prolapse) and other parts of the body (joint laxity or dislocation) can sometimes be avoided or the severity lessened with early diagnosis and monitoring.

The Medical Genetics Institute at Cedars-Sinai provides diagnosis and coordination of care for persons with any hereditary connective tissue disorder. Cedars-Sinai has a Collagen Molecular Genetics Laboratory, which provides consultation and performs biochemical and molecular genetic research of these conditions. Cedars-Sinai is also considered a major center for Marfan's syndrome. The goal of the Marfan Syndrome Center is to offer a multidisciplinary approach to diagnosing the disorder and provide comprehensive ongoing care for affected individuals.

In addition, the Medical Genetics Institute provides a referral service to the appropriate foundations, as well as patient support and education groups.