DiGeorge syndrome (22q11 deletion): causes, symptoms and outlook

DiGeorge syndrome is a condition present from birth that can cause a range of lifelong problems. It is caused by a 22q11 deletion, which is why it is also called 22q11 deletion syndrome. The NHS says some children can be severely ill and very occasionally may die from it, but many others may grow up without realising they have it.

Because the effects vary so much, two people with the same genetic change can have very different health needs. The NHS says most people will not have all of the problems listed below.

The NHS lists some of the most common issues, and says other problems are possible too.

• Learning and behaviour problems, including delays in learning to walk or talk, learning disabilities, and problems such as ADHD or autism.

• Speech and hearing problems, including temporary hearing loss due to frequent ear infections, being slow to start talking and a "nasal-sounding" voice.

• Mouth and feeding problems, including a gap in the top of the mouth or lip (cleft lip or palate), difficulty feeding and sometimes bringing food back up through the nose.

• Heart problems: some children and adults have heart defects from birth.

• Hormone problems: underdeveloped parathyroid glands produce too little parathyroid hormone (hypoparathyroidism), which can lead to tremors and seizures.

• A higher risk of infections such as ear infections, oral thrush and chest infections, because the immune system is weaker than normal.

• Bone, muscle and joint problems, including recurring leg pains, an unusually curved spine (scoliosis) and rheumatoid arthritis.

• Short stature, and in adults a higher likelihood of mental health problems such as schizophrenia and anxiety disorders.

DiGeorge syndrome is caused by 22q11 deletion, where a small piece of genetic material is missing from a person's DNA. In about 9 in 10 cases 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, and it is not the result of anything you did before or during the pregnancy. There is usually no family history, and the risk of it happening again to other children is very small.

In around 1 in 10 cases the deletion is passed on by a parent who has DiGeorge syndrome, although they may not realise they have it if it is mild.

The NHS says it is often diagnosed soon after birth with a blood test to check for the genetic fault. The NHS also says that many people grow up without realising they have it, and that a parent may not know they have it if it is mild, so the diagnosis is sometimes made later, for example when a child is diagnosed and the parents are tested.

There is currently no cure. The NHS says children and adults with the condition will be closely monitored to check for problems, and these can be treated as they happen. It also suggests speaking to a social worker, psychologist or counsellor, and mentions the charity Max Appeal! as a source of support.

A cleft lip or palate can occur as part of a condition that causes a wider range of birth defects, and the NHS cleft lip and palate page gives 22q11 deletion syndrome as an example. It also says a parent with 22q11 deletion syndrome has a 1 in 2 chance of passing the condition to their child.

Cleft care, feeding support, hearing checks and speech therapy are delivered by specialist NHS cleft teams. See the cleft palate guide for more.

The NHS says everyone with DiGeorge syndrome is affected differently and it is difficult to predict how severe the condition will be. Most children survive into adulthood. As someone 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 daily life.

Many people who reach adulthood will have a relatively normal life span, but ongoing health problems can sometimes mean life expectancy is a bit lower than usual. It is important to attend regular check-ups so that any problems can be found and treated early. Adults are often able to live independently.

The NHS says to speak to a GP if you are planning a pregnancy and have a family history of DiGeorge syndrome, or have a child with it. They may refer you for a genetic test and talk about your level of risk and your options.

These options may include a blood test to check if you or your partner carry the genetic problem, tests during pregnancy (chorionic villus sampling or amniocentesis) to check if the baby has it, although this cannot show how severely a child will be affected, and pre-implantation genetic diagnosis, a type of IVF in which embryos are tested before they are implanted. The NHS says this is not always available on the NHS.

People with DiGeorge syndrome are usually under regular specialist follow-up, so new or worsening problems should go to that team or the GP. Because low parathyroid hormone can lead to tremors and seizures, seek urgent medical help for a seizure in someone who is not known to have seizures, and for any child who seems seriously unwell, with 999 for emergencies and NHS 111 for urgent advice.

Frequent infections, difficulty feeding, hearing difficulty and delays in talking are all reasons to speak to the GP or the specialist team earlier rather than later.

On the NHS, care is usually coordinated by paediatric specialists, clinical genetics, cardiology, immunology, speech therapy and other teams, with a plan adapted over time. The NHS says clinical teams pass information to the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS), which you can opt out of at any time.

Some families also seek private specialist opinions or genetic testing. If you do, share the results with your NHS team so that monitoring stays coordinated.