Generalized Arterial Calcification of Infancy

Also known as: GACI, idiopathic arterial calcification of infancy, IACI, occlusive infantile arterial calcification, occlusive infantile arteriopathy.

What is generalized arterial calcification of infancy?

Generalized arterial calcification of infancy is a rare genetic disorder present at birth (congenital) that is characterized by calcium buildup in all blood vessels throughout the body (though affecting mainly larger and medium sized arteries). This causes hardening and narrowing of the arteries and results in an increased risk for many medical problems.

What causes generalized arterial calcification of infancy?

Generalized arterial calcification of infancy is a recessive genetic disorder that is passed along from both unaffected parents to their children. There are two different genetic types (type 1 and 2) which present similarly during infancy but differ as the children grow older.

What are the symptoms of generalized arterial calcification of infancy?

Type 1 (the more common Type) presents early in infancy and babies frequently die within the first 6 months of life. They can present in the uterus with decreased fetal activity, increased fluid around the fetus (polyhydramnios); after birth they present with blush color to the skin (cyanosis), heart failure, high blood pressure, fast breathing, swelling, distended abdomen and and kidney failure. If they survive they may present with soft bones, bow legs and some features of Rickets, and deafness.
Type 2 disease leads to abnormalities in the elastic tissue of the skin, eyes and blood vessels (plus other organs like the digestive system). The skin may have yellowish bumps (on the neck and other areas), and eye changes. They can also develop the problems associated with calcification and narrowing of the arteries.