Connective Tissue Disorder Clinic - Information

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.

Marfan Syndrome
The Marfan Foundation

Loeys-Dietz Syndrome
Loeys-Dietz Syndrome Foundation

Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome Foundation
EDS Network Cares

Arterial Tortuosity Syndrome (ATS)