Marfan Syndrome – This inherited disorder of the connective tissue most commonly affects the heart, eyes, blood vessels and bones. If the disorder affects the aorta, it can be life-threatening. People with Marfan syndrome are usually tall and thin with disproportionately long limbs. Our specialists can diagnose Marfan syndrome based on signs, family history and genetic testing.
Loeys-Dietz – This syndrome is primarily characterized by aortic aneurysms (weakened bulges in the aorta) in children. If not diagnosed and treated early, the condition can be fatal. Our genetic specialists can identify Loeys-Dietz syndrome and refer you or your child to other specialists for advanced imaging and surgical treatment if necessary.
Vascular Ehlers-Danlos – This is a group of inherited connective tissue disorders that is characterized by joint hypermobility, skin hyperextensibility and tissue fragility. If you have one of these disorders, you might experience early onset osteoarthritis, severe bruising or slow wound healing. Our specialists can accurately test for this syndrome and its related disorders and counsel you and your family members on the results.