Overview

DiGeorge syndrome, more accurately known by a broader term — 22q11.2 deletion syndrome — is a disorder caused when a small part of chromosome 22 is missing. This deletion results in the poor development of several body systems.

The term 22q11.2 deletion syndrome covers terms once thought to be separate conditions, including DiGeorge syndrome, velocardiofacial syndrome and other disorders that have the same genetic cause, though features may vary slightly.

Medical problems commonly associated with 22q11.2 deletion syndrome include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development with behavioral and emotional problems.

The number and severity of symptoms associated with 22q11.2 deletion syndrome vary. However, almost everyone with this syndrome needs treatment from specialists in a variety of fields.