What is DiGeorge syndrome?

What is DiGeorge syndrome?

DiGeorge syndrome is a genetic disorder that can affect many parts of the body. These problems, usually present at a baby’s birth or in early childhood, include heart defects, an impaired immune system and developmental delays.

Most people with DiGeorge syndrome are missing a small piece of chromosome 22 known as 22q11.2. (The condition is also known as 22q11.2 deletion syndrome.)

DiGeorge syndrome is a primary immunodeficiency disease (PIDD). These genetic disorders cause problems with the immune system.

Problems stemming from DiGeorge syndrome can range from mild to life-threatening.

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