DiGeorge Syndrome

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is caused by the deletion of a segment of chromosome 22 that carries dozens of genes, producing a highly variable combination of congenital heart defects, an underdeveloped thymus that weakens the immune system, cleft palate, characteristic facial features and learning difficulties. Because the thymus normally trains immune cells to fight infection, affected infants can be unusually vulnerable to infections in early life. American pediatric endocrinologist Angelo DiGeorge described the syndrome's combination of absent thymus and parathyroid glands in 1965, and the syndrome carries his name.