What is DiGeorge syndrome (DGS)?
DiGeorge syndrome (DGS) (also referred to as the DiGeorge sequence or DiGeorge anomalad) is another disorder resulting from the 22q11.2 deletion. In 1965, Angelo DiGeorge, M.D., first described patients with hypocalcemia, immune deficiency, and congenital heart disease. In 1982, Elaine Zackai, M.D., identified a patient with features of DiGeorge syndrome including congenital heart disease, hypocalcemia, immune deficiency, cleft palate, and a gastrointestinal abnormality. What’s the difference between VCFS and DGS? It is widely recognized that there is an overlap between VCFS and DGS, which have both been found to be caused by a chromosomal 22q11.2 deletion. Many persons with features of “DiGeorge syndrome” have many of the same problems as a person diagnosed as having “Velocardiofacial syndrome,” and the diagnostic label may depend on the presenting features of the disorder when it is first suspected or diagnosed. For example, children identified through an immunology clinic or cardiol
