DiGeorge Syndrome (DGS) is a primary immunodeficiency, often but not always, characterized by cellular (T-cell) deficiency, characteristic facies, congenital heart disease and hypocalcemia. DGS is caused by abnormal formation of certain tissues during fetal development. During fetal development, various tissues and organs often arise from a single group of embryonic cells. Although the tissues and organs that ultimately develop from this group of embryonic cells may appear to be unrelated in the fully formed child, they do have a similar origin.
Long face, small teeth, downturned mouth, low set malformed ears, hypertelorism, short philtrum and reterognathia are the symptoms seen. Therapy for DGS is aimed at correcting the defects in the affected organs or tissues. Therefore, therapy depends on the nature of the different defects and their severity. In general, patients with DGS have the same response rates to therapies as do the general population. Treatment of the low calcium and hypoparathyroidism may involve calcium supplementation and replacement of the missing parathyroid hormone.
Patients with more serious cardiac defects or hypocalcemia are diagnosed in the neonatal period. Recurrent infections usually present in patients older than 3-6 months. Some individuals without hypocalcemia who have normal immune function, mild cardiac defects, and minimal facial anomalies may remain undiagnosed until late childhood.