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DiGeorge syndrome (DGS) is a complex disorder associated with a wide variety of symptoms that is present at birth and occurs as a result of the deletion of a portion of chromosome 22 during early fetal development. Transmission from parent to child (congenital) accounts for only about 5 percent of cases. The remaining 95 percent are the result of spontaneous mutations (sporadic). These defects occur in areas known as the 3rd and 4th pharyngeal pouches, that later develop into the thymus and parathyroid glands. Cardiac defects, abnormal facial features, thymus underdevelopment, Cleft Palate, and hypocalcemia characterize DiGeorge syndrome. The first letters of each of these descriptions form the acronym, CATCH. Since the disorder is caused by the deletion of a small piece of chromosome 22, the medical community sometimes refers to DGS as CATCH-22. Facial features of DGS include wide-set eyes, low-set ears, a small jaw and a narrow, short groove in the upper lip.
The thymus gland is located below The Thyroid Gland in the neck and behind the breast bone (Sternum) of the chest and is the primary gland of the lymphatic system. It is essential for the normal functioning of the Immune system. A diminished immune system leads to repeated infections. The Parathyroid Glands, located on the sides of the thyroid gland, are responsible for the maintenance of adequate levels of Calcium in the Blood. Cardiac problems primarily involve the vessels that carry the blood from the Heart to several parts of the body. The variety and intensity of these signs and symptoms depends on the amount of genetic material lost or deleted from chromosome 22 in the course of replicating itself.
