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Di Giorgi syndrome: causes, symptoms, diagnosis, treatment
Last reviewed: 04.07.2025
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DiGeorge syndrome is associated with hypo- or aplasia of the thymus and parathyroid glands, leading to T-cell immunodeficiency and hypoparathyroidism.
DiGeorge syndrome results from a deletion of the 22q11 locus on chromosome 22, a mutation of genes at the 10p13 locus on chromosome 10, and mutations of unknown genes that result in dysembryogenesis of structures that develop from the pharyngeal pouches at 8 weeks of gestation. Most cases are sporadic; boys and girls are affected with equal frequency. DiGeorge syndrome may be partial, in which T-cell function is preserved, or complete, in which T-cell function is completely impaired.
The face of the affected child has characteristic features: low-set ears, median facial clefts, small "cut-off" lower jaw, hypertelorism, shortened upper lip filter, congenital heart defects. Children have hypo- or aplasia of the thymus and parathyroid glands, leading to T-cell deficiency and hypoparathyroidism. Recurrent infections begin immediately after birth, but the degree of immunodeficiency varies considerably, T-lymphocyte function may spontaneously improve. Hypocalcemic seizures are observed within 24-48 hours after birth.
The prognosis often depends on the severity of the heart defects. In partial DiGeorge syndrome, hypoparathyroidism is treated with calcium and vitamin D supplements; life expectancy is not affected. In complete DiGeorge syndrome, death occurs without treatment; treatment involves transplantation of thymus tissue culture.
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