thymic hypoplasia


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Related to thymic hypoplasia: thymoma, Thymic aplasia, thymic hyperplasia

Di·Geor·ge syndrome

(di-jōrj'), [MIM*188400]
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.
References in periodicals archive ?
Microcephaly with mental retardation, anemia, hypogammaglobulinemia, thymic hypoplasia, thyroid abnormalities and polycystic kidney disease were also reported in CRS.
In 1993, a group of British researchers proposed an entirely new name for the syndrome, CATCH 22, an acronym in which C stands for cardiac anomaly, A for anomalous face (characteristic appearance), T for thymic hypoplasia (under developed thymus gland), C for cleft palate, H for hypocalcemia (low blood calcium levels) and 22 for chromosome number 22 (16) and which is now being commonly referred to as Catch 22.