DiGeorge Syndrome

Introduction
Background
Conditions associated with DiGeorge syndrome are 22q11 deletion syndromes, velocardiofacial
syndrome (VCFS or Shprintzen syndrome), conotruncal anomaly face syndrome, Cayler syndrome,
Opitz-GBBB syndrome, and CHARGE (coloboma [eye], heart anomaly, atresia [choanal], retardation
[mental and growth], genital anomaly, ear anomaly) syndrome.

DiGeorge anomaly (DGA) is a congenital immunodeficiency characterized by abnormal facies;

congenital heart defects; hypoparathyroidism with hypocalcemia; cognitive, behavioral, and
psychiatric problems; and increased susceptibility to infections. Pathological hallmarks include
conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. Although
this condition is commonly known as DiGeorge syndrome, the term DiGeorge anomaly is more
appropriate. The constellation of defects is not a syndrome resulting from a single cause, but rather
the failure of an embryological field to develop normally.Read more…