DiGeorge's syndrome

DiGeorge's syndrome

[dijôrj′əz]

Etymology: Angelo M. DiGeorge, American physician, b. 1921

a congenital disorder characterized by severe immunodeficiency and structural abnormalities, including hypertelorism; notched, low-set ears; small mouth; downward slanting eyes; cardiovascular defects; and absence of the thymus and parathyroid glands. Death, often as a result of infection, usually occurs before 2 years of age. Rarely transplantation of a human fetal thymus is performed. Also called thymic hypoplasia, thymic parathyroid aplasia.

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DiGeorge's syndrome [dĭ-jor´jez]

a condition in which a child is born without a thymus gland, resulting in a complete absence of functional T cells. Normal B cell function is present.

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DiGeorge's syndrome

an immunodeficiency syndrome in humans and mice, associated with thymic hypoplasia or aplasia and absence of T lymphocytes, resulting from a congenital absence of the third and fourth branchial pouches.