DiGeorge Syndrome (22q11 Deletion)

DiGeorge Syndrome is a condition which happens when a small piece of genetic material is missing (or ‘deleted’) from chromosome 22. This is why it’s also known as ’22q11 Deletion’.

It is also sometimes called ‘Shpritzen Syndrome’ or ‘Velocardiofacial Syndrome’.

How does DiGeorge Syndrome happen?

In most cases, neither parent has DiGeorge Syndrome, it’s just something that can happen when the egg and sperm first come together to make a baby. It’s not the result of anything either parent did or didn’t do before or during pregnancy.

If someone has DiGeorge Syndrome, there’s a 50% chance they will pass it on to any children. If this happens, their children may be affected very differently to how they themselves are affected.

Genetic testing can help you understand more about why it happened and what the chances are of it happening again.

It’s estimated that around one in 1,000 babies are born with DiGeorge Syndrome, but because it can affect people in such a wide range of ways, some people may not know they have it.

How does DiGeorge Syndrome affect people?

DiGeorge Syndrome has a long list of symptoms. People with DiGeorge Syndrome will often only have some of these, and each of them will vary in how ‘severe’ these issues are.

These might include:

• Palate issues – this could be a regular cleft palate, a submucous cleft palate (where there is a cleft in the muscles, but the lining of the mouth covers this up), or a palate which seems intact but does not function properly
• Heart issues, including congenital heart disease
• Speech and hearing issues
• A weaker immune system
• Learning and behaviour issues