What is DiGeorge Syndrome?
DiGeorge Syndrome (DGS), also referred to as Velo-Cardio-Facial Syndrome (VCFS), is an immunodeficiency disorder characterized by various congenital abnormalities. Proper functioning of the immune system relies on the thymus gland. In DGS, the thymus and parathyroid glands are either not fully developed or completely absent. The parathyroid glands are responsible for regulating calcium levels in the blood. The symptoms of DGS depend on the extent to which these glands are missing.
Some individuals with DiGeorge Syndrome are nearly asymptomatic while others are affected more severely. DGS can have up to 180 different symptoms, many of which are minor and seen throughout the general population. The most common symptoms are recurrent infections, hypocalcemia (low blood calcium), heart defects, and palate abnormalities. Some of the characteristic facial features are hypertelorism (wide-set eyes), down-slanting eyes, low-set auricles (portion of the ears), prominent nose with squared nasal root, and micrognathia (small size of the lower jaw). Children with DGS can be uninhibited and impulsive, yet they are often very affectionate and able to function socially.