Individuals are typically referred to our clinic for suspicion of a connective tissue disorder either based on personal history or family history. These disorders typically present with a variety of features that can include:
Cardiovascular: Aortic root aneurysms/enlargement with/without presence of mitral valve prolapse, bicuspid aortic valve or other cardiac defects
Skeletal: Scoliosis, pectus chest wall anomalies, clubfoot, tall/thin body habitus, joint hypermobility
Skin: Translucency, skin fragility or elasticity
Ocular: Lens dislocation or myopia
Some of the disorders that are typically diagnosed in clinic are listed below. Also listed are links to Foundations dedicated to supporting families with connective tissue disorders through education, research and community.
The Marfan Foundation
Loeys-Dietz Syndrome Foundation