DiGeorge Syndrome

What is DiGeorge syndrome (22q11.2 deletion syndrome)?

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.

Who does DiGeorge syndrome affect?

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.

How common is DiGeorge syndrome?

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.

What are the symptoms of DiGeorge syndrome?

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 symptoms

Heart growth and function abnormalities can affect people diagnosed with 22q11.2 deletion syndrome and cause the following conditions:

• Tetralogy of Fallot.
• Truncus arteriosus.
• Underdeveloped aorta.
• Ventricular septal defects.
• Congenital heart disease.

Symptoms that affect your heart can be life-threatening.

Symptoms that affect your brain

Symptoms of 22q11.2 deletion syndrome can affect the function and development of your brain and could include:

• Anxiety and/or depression.
• Attention-deficit/hyperactivity disorder.
• Autism spectrum disorder.
• Challenges with cognitive development and behavior.
• Developmental delays, including fine motor skills, speech and language.
• Schizophrenia.
• Seizures.

Immune system symptoms

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 high risk of getting an infection.
• Low production of white blood cells that fight infections (T-lymphocytes).
• An underdeveloped thymus that doesn’t produce enough antibodies to fight bacteria and viruses.

Physical and body system symptoms

A deletion of part of chromosome 22 can cause physical symptoms that include:

• Hearing loss.
• Spine curvature (scoliosis).
• Vision loss.
• Testes don’t descend (cryptorchidism).
• Small adenoids and missing or small tonsils.
• Breathing difficulties.
• Lower-than-normal levels of calcium in your blood (hypocalcemia).
• Kidney structure and function abnormalities.
• Endocrine system (hormone) function abnormalities.
• Feeding difficulties during infancy.

Facial features

DiGeorge syndrome can also cause unique facial features that include:

• Hooded eyelids.
• Flat cheeks.
• A prominent or bulbous nose.
• An underdeveloped chin.
• Ears with attached lobes.
• Cleft lip and palate.

What causes DiGeorge syndrome?

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.

How is DiGeorge syndrome diagnosed?

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.

What tests diagnose DiGeorge syndrome?

Your healthcare provider will review your family medical history and the following tests to diagnose 22q11.2 deletion syndrome:

• Genetic testing: Your provider will study a small sample of blood from your newborn to detect genetic abnormalities.
• Imaging tests: X-ray and CT scan tests provide images of the inside of your child’s body. The images help identify growth abnormalities in your child’s heart and other organs.
• Physical exam: Providers examine your child’s face, ears and eyes for characteristics of the condition.

How is DiGeorge syndrome treated?

Treatment for DiGeorge syndrome (22q11.2 deletion syndrome) varies for each person and depends on what symptoms affect your body. Treatment could include:

• Antibiotic medications to treat infections.
• Calcium supplements to treat low calcium levels.
• Ear tubes or hearing aids to improve hearing.
• Occupational therapy to improve developmental delays.
• Hormone replacement therapy to treat endocrine abnormalities.
• Surgery to repair internal organ symptoms or a cleft palate.
• Medicine to reduce seizures or neurological conditions.
• Special education programs to address learning challenges in school.

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.

How can I prevent DiGeorge syndrome?

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.

What can I expect if I have DiGeorge syndrome?

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.

What is the life expectancy of a person diagnosed with DiGeorge syndrome?

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.

When should I see my healthcare provider?

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.

What questions should I ask my doctor?

If your child has DiGeorge syndrome, you may want to ask your doctor:

• What is the outlook for this condition?
• How will it affect my child’s daily life?
• What does treatment involve?
• What complications should I look out for?
• Is there a support group where I can find other families dealing with this condition?

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.