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DiGeorge syndrome: Introduction. DiGeorge syndrome is a genetic, congenital disorder that is present at birth. DiGeorge syndrome affects the endocrine system and includes a wide variety of symptoms and features that differ greatly in severity and character between individuals. Common manifestations of DiGeorge syndrome include heart defects, immune system dysfunction and abnormal facial features.
DiGeorge syndrome (also called 22q11 deletion syndrome, congenital thymic hypoplasia, or third and fourth pharyngeal pouch syndrome) is a birth defect that is caused by an abnormality in chromosome 22 and affects the baby's immune system.