DiGeorge syndrome is a genetic condition caused by a missing piece of chromosome 22. Another name for DiGeorge syndrome is 22q11.2 deletion syndrome. Symptoms can affect your heart, immune system and other body systems, and cause distinct facial characteristics. Treatment to manage your symptoms is lifelong and there’s no cure for the condition.
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic condition that can affect many parts of your body and causes heart abnormalities, an impaired immune system and developmental delays. If you’re diagnosed with DiGeorge syndrome, you’re missing a small piece of chromosome 22. Symptoms of DiGeorge syndrome can range from mild to severe. The most severe symptoms can be life-threatening.
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DiGeorge syndrome (22q11.2 deletion syndrome) can affect anyone since 90% of cases occur as a result of a random deletion on chromosome 22. This happens when the egg and sperm meet in the early stages of fetal development. The rate of occurrence is unpredictable. This condition isn’t caused by something the parents did before or during pregnancy.
In 10% of cases, some people can inherit 22q11.2 deletion syndrome from one parent who has the condition (autosomal dominant). Only one copy of the chromosome from one parent is necessary for the child to inherit the condition.
DiGeorge syndrome isn’t common. About 1 in 4,000 people in the U.S. receive a 22q11.2 deletion syndrome diagnosis annually. Some studies suggest that this estimate could be more common since the condition is underdiagnosed.
Symptoms of DiGeorge syndrome (22q11.2 deletion syndrome) can range from mild to severe and vary from person to person. Some people might not experience any symptoms of the condition but will have changes to their genetic code. The condition can affect several parts of your body.
The classic features are problems with the heart, underdeveloped thymus and decreased calcium levels.
Heart growth and function abnormalities can affect people diagnosed with 22q11.2 deletion syndrome and cause the following conditions:
Symptoms that affect your heart can be life-threatening.
Symptoms of 22q11.2 deletion syndrome can affect the function and development of your brain and could include:
A deletion on chromosome 22 can cause symptoms that affect the function of your immune system. Your immune system is responsible for fighting infections and keeping you healthy. Symptoms could include:
A deletion of part of chromosome 22 can cause physical symptoms that include:
DiGeorge syndrome can also cause unique facial features that include:
A missing part of chromosome 22 causes DiGeorge syndrome (22q11.2 deletion syndrome). Each chromosome holds thousands of genes. Genes are responsible for providing the instruction manual to help your body grow and function. The term “22q11.2” gives the specific location on the chromosome where genes are missing; segment 11 on the long arm (q) of chromosome 22. When you’re missing potentially thousands of genes, your body doesn’t have the instructions you need to develop as expected and you’ll experience symptoms.
DiGeorge syndrome can be detected prenatally based upon prenatal ultrasound results and amniocentesis.
If not detected prior to delivery, your healthcare providers will likely diagnose DiGeorge syndrome soon after your child is born. They may request special tests if they suspect the condition based on symptoms such as seizures, unique facial characteristics or blood tests that show low calcium levels.
Your healthcare provider will review your family medical history and the following tests to diagnose 22q11.2 deletion syndrome:
Treatment for DiGeorge syndrome (22q11.2 deletion syndrome) varies for each person and depends on what symptoms affect your body. Treatment could include:
Your provider will immediately treat symptoms that could be life-threatening after a diagnosis, especially symptoms that affect your child’s heart, to prevent complications.
You can’t prevent DiGeorge syndrome since it’s a genetic condition. If you plan on becoming pregnant and want to learn about your risk of having a child with a genetic condition, talk to your provider about genetic testing.
If you’re pregnant and have a family member with 22q11.2 deletion syndrome, ask your provider about prenatal and newborn screenings. These tests can reveal signs of the condition, such as heart and kidney abnormalities, before your baby is born. Detecting the condition early can help you and your provider prepare for your baby’s care after they’re born.
DiGeorge syndrome is a lifelong condition without a cure. Your outlook depends on the severity of your symptoms. Some of your symptoms could be life-threatening, especially if they affect your heart. With ongoing treatment and support, adults diagnosed with DiGeorge syndrome live active and fulfilling lives with limited interruption from their condition.
Most people diagnosed with DiGeorge syndrome have a normal life expectancy with mild symptoms. Severe symptoms can lead to a shortened life expectancy without treatment.
In most cases, your provider will diagnose DiGeorge syndrome when your baby is born or during early childhood checkups. Contact your provider if your child shows signs or symptoms of DiGeorge syndrome.
If your child diagnosed with 22q11.2 deletion syndrome has trouble breathing or has a seizure, call 911 or visit the emergency room immediately.
If your child has DiGeorge syndrome, you may want to ask your doctor:
A note from Cleveland Clinic
It may be overwhelming to learn that your newborn has a genetic condition like DiGeorge syndrome. Remember that their diagnosis isn’t a result of something you did as their parent, rather their genetic instruction manual didn’t get put together completely when they were developing. Talk to your provider about genetic counseling to learn more about your child’s diagnosis and how you can help them grow.
Last reviewed by a Cleveland Clinic medical professional on 04/03/2023.
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