An inherited disorder caused by genetic mutations that affect the connective tissue in some body parts.  The elastic tissue becomes mineralized and there is a buildup of deposits made from calcium and other minerals in the elastic fibers.  Parts of the body effected can be, but are not limited to the skin, eyes, cardiovascular and gastrointestinal system.

This is a progressive disorder and unfortunately at this time there is no way to predict the progression in different patients.  Each case is unique. For instance, one of the most common signs of the condition is skin lesions – however, there are patients that never develop them.

Recommended Doctor(s) would depend on each specific way it manifests: Rheumatologist (overall connective tissue), Cardiologist (heart and vascular), Gastroenterologist (gastrointestinal), etc.

A connective tissue disorder with four specific types; which are differentiated by their genetic causes.  Signs and symptoms have no specific onset age range and the severity also ranges by person. One key sign of the condition is an enlarged aorta but symptoms are not limited to the heart.  Signs and symptoms can also be found in the blood vessels, bones, joints, skin, and internal organs such as the intestines, spleen, and uterus.