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DiGeorge syndrome

Pronunciation: di-jorj'

Definition: a condition arising from developmental failure of the third and fourth pharyngeal pouches, resulting in the absence or underdevelopment of the thymus and parathyroid gland, associated with abnormalities of the outflow tract of the heart, distinctive facies, hypoparathyroidism, hypocalcemia with tetany, and deficiency in T-cell immunity; this is a contiguous gene deletion s. involving chromosome 22q11 with the loss of TBX1 gene; autosomal dominant inheritance.

Synonym(s): CATCH 22, congenital aplasia of thymus, conotruncal anomaly-face syndrome, immunodeficiency with hypoparathyroidism, pharyngeal pouch syndrome, Sprintzen syndrome, third and fourth pharyngeal pouch syndrome, thymic hypoplasia

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.