DiGeorge syndrome results from a chromosomal abnormality. The symptoms and presentation are so diverse and vary so drastically from one child to another that the disease has had a lot of different names in the past, including Shprintzen syndrome, Velocardiofacial syndrome, and CATCH 22 syndrome. DiGeorge syndrome can affect a range of body systems, although presentation varies in severity as well as which body systems are affected. Management depends on these varying factors and can include surgery and therapy.


1. Cause

DiGeorge syndrome is a genetic condition caused by a defect in chromosome 22. Specifically, a piece of chromosome 22 is missing in individuals with DiGeorge syndrome. Experts estimate about one in 4,000 people have this genetic abnormality, though some think this number may be even higher because some children present with less severe symptoms.

Chromosome 22 Missing BlackJack3D / Getty Images

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