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DiGeorge syndrome (22q11 deletion)

DiGeorge syndrome is a condition present from birth that can cause a range of lifelong problems, including heart defects and learning difficulties.

The severity of the condition varies. Some children can be severely ill and very occasionally may die from it, but many others may grow up without realising they have it.

DiGeorge syndrome is caused by a problem with a person's genes, called 22q11 deletion. It is not usually passed on to a child by their parents, but it is in a few cases.

It's often diagnosed soon after birth with a blood test to check for the genetic fault.

DiGeorge syndrome can cause a range of problems, but most people will not have all of these.

Some of the most common issues are:

Other possible problems include:

DiGeorge syndrome is caused by a problem called 22q11 deletion. This is where a small piece of genetic material is missing from a person's DNA.

In about 9 in 10 cases (90%), the bit of DNA was missing from the egg or sperm that led to the pregnancy. This can happen by chance when sperm and eggs are made. It is not a result of anything you did before or during the pregnancy.

In these cases, there's usually no family history of DiGeorge syndrome and the risk of it happening again to other children is very small.

In around 1 in 10 cases (10%), the 22q11 deletion is passed on to a child by a parent who has DiGeorge syndrome, although they may not realise they have it if it's mild.

If neither parent has DiGeorge syndrome, the risk of having another child with it is thought to be less than 1 in 100 (1%).

If 1 parent has the condition, they have a 1 in 2 (50%) chance of passing it on to their child. This applies to each pregnancy.

Speak to a GP if you're planning a pregnancy and you have a family history of DiGeorge syndrome, or you have a child with it.

They may refer you for a genetic test and talk about your level of risk and discuss your options. These may include:

There's currently no cure for DiGeorge syndrome. Children and adults with the condition will be closely monitored to check for problems, and these can be treated as they happen, if needed.

For example, someone with DiGeorge syndrome may have:

You may find it useful to speak to a social worker, psychologist or counsellor, who you can contact directly or through a doctor.

Charities such as Max Appeal! may also be a good source of support.

Read more advice about caring for a disabled child.

Everyone with DiGeorge syndrome is affected differently and it's difficult to predict how severe the condition will be. Most children survive into adulthood.

As someone with DiGeorge syndrome gets older, some symptoms, such as heart and speech problems, tend to become less of an issue. However, behavioural, learning, and mental health problems can continue to affect their daily life.

Many people with DiGeorge syndrome who reach adulthood will have a relatively normal life span, but ongoing health problems can sometimes mean their life expectancy is a bit lower than usual. It's important to attend regular check-ups so that any problems can be found and treated early.

Adults with DiGeorge syndrome are often able to live independently.

If your child has DiGeorge syndrome, your clinical team will pass information about them to the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS).


Find out more about the register