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, any 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 include:
Some children with the syndrome had been diagnosed with 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.
Most children with 22q11.2DS are missing about 50 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.
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.
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:
Facial features of children may include:
The symptoms of 22q11.2DS can be like other health conditions. Make sure your child sees his or her healthcare provider for a diagnosis.
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:
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:
Other common problems that may need treatment include:
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 needs.
Some children with the syndrome may have behavioral conditions. These include autism, attention deficit disorder, obsessive compulsive disorder, 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 for every pregnancy you have.
Most health problems caused by 22q11.2DS can be treated, especially if they are found early. You can help your child by:
Call the healthcare provider if your child has:
Tips to help you get the most from a visit to your child’s healthcare provider:
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