Syndrome, DiGeorge (DGS):
This disorder is characterized by (1) low blood calcium levels (hypocalcemia) due to underdevelopment (hypoplasia) of the parathyroid glands which control calcium; (2) underdevelopment (hypoplasia) of the thymus, an organ behind the breastbone in which lymphocytes mature and multiply; and (3) defects of the heart involving the outflow tracts from the heart. Most cases of DGS are due to a microdeletion in chromosome band 22q11.2. A small number of cases have defects in other chromosomes, notably 10p13. Named after the American pediatric endocrinologist Angelo > DiGeorge. Other names for DGS include the third and fourth pharyngeal pouch syndrome and hypoplasia of the thymus and parathyroids.
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