Home > Encyclopedia of Children's Health > DiGeorge Syndrome

Definition

DiGeorge syndrome is a rare congenital disease that affects an infant's immune system and that is due to a large deletion from chromosome 22. The syndrome is marked by absence or underdevelopment of the thymus and parathyroid glands. It is named for the pediatrician who first described it in 1965.

Normally the thymus gland is located below the thyroid gland in the neck and front of the chest and is the primary gland of the lymphatic system, which is necessary for normal functioning of the immune system. The parathyroid glands, located on the sides of the thyroid gland, are responsible for maintenance of normal levels of calcium in the blood. In children with DiGeorge syndrome, the thymus and parathyroid glands are missing or undeveloped. The symptoms of this disorder vary, depending on the extent of missing thymus and parathyroid tissue. The primary...