Connective Tissue Disorders Information

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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
National Marfan Foundation
GeneReviews

Loeys-Dietz Syndrome
Loeys-Dietz Syndrome Foundation
GeneReviews

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

• EDS, Classic type
• EDS, hypermobility type
• EDS, vascular type

Bicuspid Aortic Valve and Aneurysm syndrome

Familial Thoracic Aortic Aneurysm syndrome
GeneReviews

Arterial Tortuosity Syndrome (ATS)