DiGeorge Syndrome (22q11.2 Deletion Syndrome) By James Fernandez, MD, PhD, Cleveland Clinic Lerner College of Medicine at Case Western Reserve University Reviewed / Revised Jan 2023 View Patient Education Symptoms and Signs Diagnosis Treatment Topic Resources Overview of DiGeorge Syndrome DiGeorge syndrome is thymic and parathyroid hypoplasia or aplasia leading to T-cell immunodeficiency and hypoparathyroidism.