What is 22q11.2 deletion syndrome in children?
The 22q11.2 deletion syndrome (22q11.2DS) is a genetic disorder. In children with
this syndrome, a tiny piece of chromosome 22 is missing. This can cause many health
problems. These problems may range from heart defects and developmental delays to
seizures. The child may also have changes in how the eyes, nose, or ears look. Or
the child may have an opening in the roof of the mouth (cleft palate). Most children
with the syndrome only have some of the health problems. In general, many of the health
problems can be treated, especially if they are found early.
The name of the syndrome refers to the missing piece of chromosome 22. It is located
at a place on that chromosome called q11.2.
The symptoms of 22q11.2DS can vary greatly from one child to another. For that reason,
several disorders caused by 22q11.2DS have had other names in the past. These names
Some children with the syndrome had been diagnosed with a form of Opitz G/BBB syndrome
or Cayler cardiofacial syndrome in the past. Healthcare providers now know that these
disorders all share the same genetic cause as 22q11.2DS.
About 1 in 4,000 people have 22q11.2DS. But some experts believe this number is higher.
Some parents who have a child with this chromosome problem may not know it because
the symptoms are less severe.
What causes 22q11.2DS in a child?
Most children with 22q11.2DS are missing 30 to 40 genes. Researchers don’t yet know
the exact function of many of these genes. But missing the gene TBX1 on chromosome
22 likely causes the syndrome's most common physical symptoms. These include heart
problems and cleft palate. The loss of another gene (called COMT) may also explain
the higher risk for behavior problems and mental illness.
About 9 in 10 cases of 22q11.2DS happen by chance (randomly). They occur when the
egg is fertilized. Or they occur early in a baby’s growth in the mother’s uterus.
This means that most children with the disorder have no family history of it.
But a person with the condition can pass it on to his or her children. About 1 in
10 cases are inherited from the mother or the father. When the condition is inherited,
other family members could also be affected. A person who has this chromosome deletion
has a 1 in 2 chance of passing the problem to a child. So both parents can have their
blood studied to look for the deletion.
Which children are at risk for 22q11.2DS?
A child is more at risk for this disorder if he or she has a parent with the condition
or is carrying the faulty chromosome. But most cases occur randomly.
What are the symptoms of 22q11.2DS in a child?
Symptoms of 22q11.2DS may vary widely, even among family members. At least 30 symptoms
have been seen with this disorder. Most children have only some of the symptoms.
The most common symptoms include:
Heart defects. These are usually present from birth (congenital).
Mouth problems. These include cleft palate and a palate that does not move normally (velopharyngeal
insufficiency). These can cause speech problems.
Ear problems. This includes middle ear infections or hearing loss.
Low levels of calcium in the blood. This is caused by problems with the parathyroid glands and can trigger seizures.
Immune system problems. These can increase the risk for infections.
Spine problems. These include curvature of the spine (scoliosis) and problems with the bones of the
neck or upper back.
Learning problems. These include delays in development and speech.
Communication and social problems. This includes autism.
Increased risk for mental illness. This includes anxiety, depression, or schizophrenia in adulthood.
Feeding difficulties. These may occur because of a cleft palate, gastroesophageal reflux, or other issues.
Kidney problems. These may include an abnormally shaped kidney or a missing kidney.
Facial features of children may include:
Small ears with squared upper ear
Cleft lip, cleft palate, or both
Uneven (asymmetric) face when crying
Small mouth, chin, and side areas of the tip of the nose
The symptoms of 22q11.2DS can be like other health conditions. Make sure your child
sees his or her healthcare provider for a diagnosis.
How is 22q11.2DS diagnosed in a child?
Your child’s healthcare provider will look at your child’s prenatal history and complete
health and family history. He or she will do a physical exam. Your child may need
certain tests. These may include:
Blood tests. These are to look for immune system problems.
X-ray. This test makes pictures of internal tissues, bones, and organs.
Echocardiography. This test looks at the structure of the heart and how well it is working.
Fluorescent in situ hybridization (FISH) studies. This blood test looks for certain genes that are deleted. If the FISH test doesn’t
find any deletion in the 22q11.2 region of the chromosome, but your child has signs
of the syndrome, he or she will usually need a full chromosome study. This will look
for other chromosome problems.
Chromosomal microarray. This is similar to a FISH test. But it looks at many regions across all the chromosomes,
including chromosome 22. This is to find a missing piece in the 22q11.2 location.
How is 22q11.2DS treated in a child?
There is no cure for 22q11.2DS. But many of its related health problems can be treated.
You can help your child by seeking early care.
Treatment will depend on your child’s symptoms, age, and general health. It will also
depend on how severe the condition is.
Treatment may include working with specialists. This may include any of the below:
Cardiologist. He or she will look at any heart defects. The cardiologist may correct them with a
procedure or surgery.
Plastic surgeon, otolaryngologist or oral and maxillofacial surgeon, and speech pathologist. They will look at any cleft lip or cleft palate defects.
Speech and digestive specialists. They will look at any feeding problems. Some children with the syndrome have severe
feeding problems. They need tube feedings in order to get enough nutrition.
Immune system specialist. Your child should be checked by this type of specialist. If your child has a T cell
problem, he or she is at risk for infections that keep coming back. Your child should
not have any live viral vaccines. Your child should have any blood products for a
transfusion irradiated. This is true unless your child’s immune system healthcare
provider says that is not needed.
Neurology and developmental pediatric specialist. Learning, developmental, and behavioral difficulties are common. This type of healthcare
provider can screen for as well as monitor and address these problems if they occur.
Endocrinologist. This specialist treats problems of the endocrine system. Your child may have parathyroid
glands that haven't fully developed. This can result in hypocalcemia, which causes
low calcium levels. It's a potentially life-threatening side effect of the syndrome.
Other common problems that may need treatment include:
Low calcium. This is common in children with the syndrome, especially right after birth. But it
can also happen during times of stress, such as during puberty or after surgery. Your
child may need to take calcium and vitamin D supplements.
Development problems. Young children with 22q11.2DS may be slow to meet developmental milestones. These
include sitting, walking, and talking. The International 22q11.2 Deletion Syndrome
Foundation recommends that parents consider physical therapy (PT), occupational therapy
(OT), and speech therapy for their child. PT strengthens large muscles and helps children
meet developmental milestones. OT focuses on small muscles used for tying shoes, buttoning
clothes, and other tasks. It can also help with feeding problems. Speech therapy can
help your child with language delays.
What are possible complications of 22q11.2DS in a child?
A small number of children with severe heart defects and immune system problems caused
by 22q11.2DS will not survive the first year of life. But most children with the syndrome
who get treatment will survive and grow into adulthood. These children will likely
need extra help throughout school. They may also need long-term care for their health
Some children with the syndrome may have behavioral conditions. These include autism,
attention deficit disorder, obsessive compulsive disorder, or anxiety.
How can I help prevent 22q11.2DS in my child?
Most cases of 22q11.2DS occur randomly. So the disease can’t always be prevented.
In about 1 in 10 cases of the syndrome, the deletion is inherited from one of the
parents. Think about having genetic testing and counseling to find out if this disorder
is inherited. If you have the 22q11.2 deletion, you have a 1 in 2 chance of passing
it on to a child. This is true for every pregnancy you have.
How can I help my child live with 22q11.2DS?
Most health problems caused by 22q11.2DS can be treated, especially if they are found
early. You can help your child by:
Keeping all appointments with your child’s healthcare provider.
Calling the healthcare provider if you are concerned about your child’s symptoms.
Telling others of your child’s condition. Work with your child’s healthcare provider
and school to come up with a treatment plan.
Thinking about getting genetic testing and counseling to understand whether 22q11.2DS
is an inherited condition in your family.
When should I call my child’s healthcare provider?
Call the healthcare provider if your child has:
Key points about 22q11.2DS in children
22q11.2DS deletion syndrome is a genetic disorder where a tiny piece of chromosome
22 is missing.
Most cases happen randomly as a baby grows in the mother’s uterus. It can also be
Symptoms vary widely and can range from heart defects and developmental delays to
seizures. A child’s eyes, nose, or ears may look different. Or the child may have
an opening in the roof of the mouth (cleft palate).
The syndrome has no cure. But many related health problems can be treated. You can
help your child by seeking early care.
Most children who get treatment early will survive and grow into adulthood. They will
likely need extra help throughout school. They may also need long-term care for their
A person with this condition has a 1 in 2 chance of passing the problem to a child.
So genetic testing and counseling are important.
Tips to help you get the most from a visit to your child’s healthcare provider:
Know the reason for the visit and what you want to happen.
Before your visit, write down questions you want answered.
At the visit, write down the name of a new diagnosis, and any new medicines, treatments,
or tests. Also write down any new instructions your provider gives you for your child.
Know why a new medicine or treatment is prescribed and how it will help your child.
Also know what the side effects are.
Ask if your child’s condition can be treated in other ways.
Know why a test or procedure is recommended and what the results could mean.
Know what to expect if your child does not take the medicine or have the test or procedure.
If your child has a follow-up appointment, write down the date, time, and purpose
for that visit.
Know how you can contact your child’s provider after office hours. This is important
if your child becomes ill and you have questions or need advice.
Online Medical Reviewers:
- Chad Haldeman-Englert MD
- Daphne Pierce-Smith RN MSN CCRC
- Pat F Bass MD MPH