DiGeorge syndrome is a severe genetic disorder that is noticeable at birth. At the very worst, it can result in heart defects, learning difficulties, a cleft palate and potentially many other problems. However, not everyone is severely affected and most people with the condition will live normal life spans.
In almost all cases of DiGeorge syndrome, these symptoms and features result from a missing piece of chromosome – a genetic fault, or mutation, called 22q11 deletion.
The 22q11 deletion can potentially result in many different combinations of symptoms (syndromes), and DiGeorge syndrome is just one possible consequence.
Each person with DiGeorge syndrome is affected differently and the symptoms can vary widely.
This page covers:
DiGeorge syndrome can potentially cause many different problems affecting various areas of the body.
The main features are described below, but bear in mind that the severity of these problems varies from person to person and some people with the syndrome will only experience a few of them.
It's common for children with DiGeorge syndrome to have heart abnormalities from birth, such as a hole in the heart or a problem with the main artery leaving the heart (the aorta).
Many children will have four specific structural abnormalities of the heart, collectively known as 'tetralogy of Fallot':
Learn more about congenital heart disease.
A doctor will carry out an echocardiogram (ultrasound of the heart) to check if your child has these heart problems. Surgery may be needed to correct some of them.
Commonly, children with DiGeorge syndrome will have slow development of speech and poor concentration, and may struggle with maths and problem solving.
Attention deficit hyperactivity disorder (ADHD)](https://www.your.md/condition/attention-deficit-hyperactivity-disorder) and [autistic spectrum disorder are fairly common, which makes learning even more difficult.
The earlier any learning difficulties are noticed the better, as prompt treatment can reduce their impact and allow parents to organise any special help needed at nursery or school.
Some children with DiGeorge syndrome have a cleft palate (hole in the roof of their mouth) or a problem with the surrounding mouth muscles. A few will also have a cleft lip (split in the upper lip). Read more about cleft lip and palate problems.
These problems can result in:
Children with DiGeorge syndrome tend to have the following features:
These features will become easier to spot as the child gets older.
Children with DiGeorge syndrome generally have weak immune systems because of a problem with the thymus gland – a gland in the neck that produces cells needed to fight invading germs. It means they may be susceptible to recurrent infections such as oral thrush and pneumonia.
However, immune system problems often improve with age.
Many children with DiGeorge syndrome also have an underactive parathyroid gland, known as hypoparathyroidism.
There are four tiny parathyroid glands, each the size of a grain of rice, in the neck behind the thyroid gland. They produce parathyroid hormone to help control the levels of calcium, phosphorus and vitamin D within the bones and blood.
An underactive gland causes low levels of calcium in the blood. This means a child with DiGeorge syndrome may experience seizures (fits), although these are unusual after infancy.
Some children may also be short for their age because of a growth hormone deficiency, and have an underactive thyroid gland.
Children with DiGeorge syndrome may find it difficult to make friends with children their own age and may struggle making eye contact.
They may have rapid mood swings, swinging from quietness to hyperactivity, and have unexpected temper tantrums.
Teenagers with DiGeorge syndrome are more likely to develop depression and other psychiatric conditions, including schizophrenia.
Bone and muscle problems are fairly common in people with DiGeorge syndrome.
Problems that can occur include:
Possible eye problems include a hole in the iris of the eye, known as coloboma, and small cataracts – although these probably won't need treating. Read more about coloboma and childhood cataracts.
It is quite common for someone with DiGeorge syndrome to have a missing kidney, or for one kidney to be smaller than the other. An ultrasound scan will pick this up.
This shouldn't cause any problems and no treatment is necessary.
In most cases of DiGeorge syndrome, the missing piece of chromosome would already have been missing from the egg or sperm from which the baby was conceived. It's fairly common for errors like this to happen by chance when DNA is copied to make sperm and eggs, and you cannot prevent it.
In a small number of cases, the 22q11 deletion will have been passed on to the child by one of the parents who already had the mutation.
The piece of missing chromosome that causes DiGeorge syndrome is so small that it cannot be seen under a microscope.
If a doctor suspects DiGeorge syndrome in an unborn baby, they will order a special test called the FISH test (fluorescence in situ hybridisation) to be carried out on a sample of the fluid surrounding the baby (an amniocentesis). The FISH test shows whether or not the region of chromosome 22 is present. If only one copy of chromosome 22 'lights up' with the fluorescent DNA dye, rather than both copies, the test is positive.
If a doctor suspects an adult or child has DiGeorge syndrome, the FISH test is carried out on a blood sample.
However, the FISH test doesn't pick up every case of DiGeorge syndrome. A small minority of people with the syndrome will not test positive, and the diagnosis will be solely made on the characteristic features and symptoms.
An affected parent has a 50% chance of passing on the condition to their child. This applies in each pregnancy. If neither parent is missing the piece of chromosome, there's still a 1-2% chance they will have a further child with the syndrome.
The earliest an unborn baby can be tested in pregnancy is at 11 weeks, by chorionic villus sampling (CVS), so booking [antenatal care] early is essential. Testing is also available by amniocentesis from 16 weeks onwards.
Find out more about genetic testing and counselling.
Your child will have regular tests from infancy onwards, including:
Before they start school, your child's developmental progress and speech and language development should be carefully assessed. If your child has a learning disability, their educational needs can be met either in a mainstream school with extra support, or in a special school. Read more about education for children with learning disabilities.
A physiotherapist can help with any physical problems – for example, shoe inserts (orthoses) may help your child's leg pains. Read more about physiotherapy.
Surgery may be needed to correct any serious problems, such as heart surgery or an operation to reduce the amount of air escaping through their nose (if your child's speech is very nasal).
You may find it useful to discuss your concerns with a social worker, psychologist or counsellor, whom you can contact directly or via your doctor.
Self-help groups such as the Max Appeal and The 22q11 Group may also be a good source of information and support.
Important: Our website provides useful information but is not a substitute for medical advice. You should always seek the advice of your doctor when making decisions about your health.