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
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
mouth (cleft palate). Most children with the syndrome have only some of the health
problems. In general, many of the health problems can be treated, especially if they
The name of the syndrome refers to
the missing piece of chromosome 22. It is located at a specific place on that chromosome
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 include:
- DiGeorge syndrome
- Velocardiofacial syndrome (VCFS)
- Shprintzen syndrome
- Conotruncal anomaly face syndrome (CTAF)
- Sedlackova syndrome
- CATCH 22 syndrome
Some children with the syndrome had
been diagnosed with a form of Opitz G/BBB syndrome or Cayler cardiofacial syndrome
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.
Most children with 22q11.2DS are
missing approximately 40 genes. Researchers don’t yet know the exact function of many
these genes. Missing the TBX1 gene on chromosome 22 may likely cause the syndrome's
common physical symptoms. These include heart problems and cleft palate. The loss
another gene (called COMT) may also explain the higher risk for behavior problems
About 9 in 10 cases of 22q11.2DS
happen by chance (randomly). They are present at the time when the egg is fertilized.
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 their children. About 1 in 10 cases are inherited from the mother or
father. When the condition is inherited, other family members could also be affected.
person who has this chromosome deletion has a 1 in 2 chance of passing the problem
child. So both parents can have their blood studied to look for the deletion.
A child is more at risk for this
disorder if they have a parent who has the condition or is carrying the faulty
chromosome. But most cases occur randomly.
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
Heart defects. These are usually present from
Mouth problems. These include cleft palate and a palate
that does not move normally (velopharyngeal insufficiency). These can cause speech
Ear problems. This includes middle ear infections or
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
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
Communication and social problems. This includes
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
- Hooded eyelids
- 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 their healthcare provider
Your child’s healthcare provider
will look at your child’s prenatal history and complete health and family history.
will do a physical exam. Your child may need certain tests. These may include:
Blood tests. These are to look for immune system
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 at a specific spot in the 22q11.2 region to see if it is deleted.
the FISH test doesn’t find any deletion in the 22q11.2 region of the chromosome but
your child has signs of the syndrome, they 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. This test is done more
commonly than the FISH test to look for the deletion.
There is no cure for 22q11.2DS. But
many of its related health problems can be treated. You can help your child by seeking
Treatment will depend on your
child’s symptoms, age, and general health. It will also depend on how severe the
Treatment may include working with
specialists. This may include any of the following:
Cardiologist. They 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
Speech and digestive specialists. They will look at any
feeding problems. Some children with the syndrome have severe feeding problems. They
may 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, they are 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 it is
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.
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
Other common problems that may need
Low calcium. This is common in children with the syndrome,
especially right after birth. But it can also happen during times of stress, such
during puberty or after surgery. Your child may need to take calcium and vitamin D
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.
A small number of children with
severe heart defects and immune system problems caused by 22q11.2DS will not survive
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 needs.
Some children with the syndrome may
have behavioral conditions. These include autism, attention deficit disorder, obsessive
compulsive disorder, schizophrenia, or anxiety.
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
every pregnancy you have.
Most health problems caused by
22q11.2DS can be treated, especially if they are found early. Here are things you
to help your child:
- Keep all appointments with your
child’s healthcare provider.
- Call the healthcare provider if you
are concerned about your child’s symptoms.
- Tell others of your child’s condition.
Work with your child’s healthcare provider and school to come up with a treatment
- Think about getting genetic testing
and counseling to understand whether 22q11.2DS is an inherited condition in your
When to Call a Healthcare Provider
Call the healthcare provider if your child has:
- Symptoms that don’t get better, or get worse
- New symptoms
- 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 inherited. About 1 in 10 cases are
- 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
- 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 health needs.
- 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.