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Ask the Doctor: David Liang, M.D.

Q. What are the signs/characteristics of Marfan syndrome?

A. Marfan syndrome is a genetic disorder that impacts the body’s connective tissue, which holds all the body’s cells, organs and tissues together. Connective tissue also plays a role in helping your body grow and develop properly.

People with Marfan syndrome are born with it, but signs of the condition are not always present immediately. Some may have features at birth or as young children, such as serious conditions like aortic enlargement. Others won’t develop symptoms until they’re adults.

Every person’s experience with Marfan syndrome is different, but common signs include long arms, legs and fingers, tall and thin body type, curved spine, chest sinks in or sticks out, flexible joints, flat feet, crowded teeth, and stretch marks that develop on the skin that are not related to weight gain or loss. Other less well-known features include sudden lung collapse and eye problems, particularly dislocation of the lenses.

Problems with the heart and the blood vessels, in particular aneurysm of the aorta, are the most important concerns, as they were frequently the cause of death before treatment became available. With proper treatment and surveillance normal life expectancy can be restored.

Some features are progressive, meaning they can get worse as you age. This makes it more important for people with Marfan syndrome to have ongoing monitoring, especially for life-threatening aspects of the condition that may impact your heart and blood vessels.

The earlier a person can be diagnosed, the better, as some treatments can prevent symptoms from getting worse and can ultimately improve your quality of life.

Related conditions such as Loeys-Dietz Syndrome and vascular Ehlers-Danlos Syndrome can share many of the features of Marfan syndrome and also benefit from precise diagnosis and appropriate management.

The newly developed Hoag Marfan Syndrome and Related Conditions Program is here to help you or your loved one. If you’re concerned you may have this condition, we can be reached at 949-764-8468 or email [email protected].