DiGeorge syndrome: A congenital disorder characterized by low blood calcium ( hypocalcemia ) because of hypoplasia (underdevelopment) of the parathyroid glands needed to control calcium; immunodeficiency due to hypoplasia of the thymus (an organ behind the breastbone in which lymphocytes mature and multiply); and defects involving the outflow tracts from the heart. Next to Down syndrome, DiGeorge syndrome is the most common genetic cause of congenital heart disease. DiGeorge syndrome is caused by a microdeletion in chromosome band 22q11.2. The key gene that is lost is Tbx-1, a master control gene that regulates other genes required for the connection of the heart with the blood circulation. Tbx-1 also controls genes involved in the development of the parathyroid and thymus glands and the shape of the face. Transplantation of thymus tissue has been reported to restore normal immune function in infants with DiGeorge syndrome. The syndrome is named for the American pediatric endocrinologist Angelo DiGeorge who worked at St. Christopher's Hospital in Philadelphia. Also known as hypoplasia of the thymus and parathyroids and as third and fourth pharyngeal pouch syndrome.

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