22q11.2 Deletion Syndrome

What Is 22q11.2 Deletion Syndrome?

Chromosomes are thread-like strands of DNA that essentially carry each person’s “blueprint.” During conception, 23 chromosomes from each parent are given, for a total of 46 chromosomes. Each chromosome is identified by a number from 1 through 46. If your child has 22q11.2 deletion syndrome, it means that your child is missing a small piece of chromosome 22. The part that is missing, referred to as a deletion, is known as 22q11.2.

22q11.2 deletion syndrome is a genetic disorder. It is linked to over 180 different health issues, though your child may not have every issue. The most common issues include:
  • Cleft palate
  • Heart defects
  • Facial differences
  • Learning problems
  • Speech problems
  • Feeding or breathing issues
22q11.2 deletion syndrome is also referred to as velocardiofacial syndrome, Shprintzen syndrome, and DiGeorge syndrome.

When a baby is born with a birth defect, it is normal for the parents to feel frightened and overwhelmed. Parents have many questions about the treatment and prognosis. Our focus is to provide your child with compassionate, state-of-the-art care from some of the nation’s top surgeons and specialists while making sure you understand and feel comfortable with every step of the treatment process.

Other health issues include:
  • Tapered fingers or extra toes
  • Issues with the cervical spine
  • Issues with the muscles in the back of the mouth, which can lead to speech problems
  • Issues with cells that fight infection 
At the Yale Craniofacial Program, your child will receive care from some of the top surgeons and specialists in the world. We care deeply about your child’s immediate and future emotional and physical well-being.

Causes of 22q11.2 Deletion Syndrome

When a child is born with a birth defect, the most common question parents ask is, “Why?”

Only 10 percent of cases of 22q11.2 deletion syndrome are inherited. In these cases, the syndrome is autosomal dominant, requiring only one parent to carry the genetic mutation. There is a 50 percent chance the mutation will be passed onto your child.

However, in the vast majority of cases, 22q11.2 deletion syndrome is the result of a new genetic mutation. When a new genetic mutation occurs, parents may feel a sense of guilt, wondering if they did something or if they could have prevented the syndrome. Research shows that no activity during pregnancy causes the genetic mutation to occur.

The syndrome occurs in 1 of 4,000 newborns.

It is natural to wonder if you will have another child with 22q11.2 deletion syndrome. If either of the parents carries the mutation, there is a 50 percent chance you will have another child with this chromosomal deletion syndrome.
 
It is also natural to wonder if your child will have children with 22q11.2 deletion syndrome. He or she has a 50 percent chance of passing the genetic mutation onto his or her child.

Symptoms of 22q11.2 Deletion Syndrome

Symptoms of 22q11.2 deletion syndrome vary highly. Some more common symptoms include:
  • Cleft palate
  • Facial differences
  • Learning problems
  • Speech problems
  • Feeding or breathing issues 
This list should be used as a guideline. Not every symptom is included. If your child has one or more of these symptoms, it does not mean that he or she has 22q11.2 deletion syndrome. If you are concerned that your child might have 22q11.2 deletion syndrome, please make an appointment with your child's doctor.

Using 3D CT imaging, we can provide a diagnosis more quickly and with more accuracy than ever before. Traditional CT scans provide black and white, one-dimensional scans, while advanced 3D imaging technology provides colored, multidimensional images that allow us to see the specific characteristics of your child’s condition. In this way, we can better understand how your child’s birth defect will specifically impact his or her health and development. 

Treatments for 22q11.2 Deletion Syndrome

Rest assured that our craniofacial team at the Yale Craniofacial Program is experienced at treating children with 22q11.2 deletion syndrome. We offer your child superlative care from some of the top specialists in the world.

The approach to treatment for 22q11.2 deletion syndrome varies depending on how the syndrome manifests in your child. Some common problems and treatments are listed below.

Cleft palate and earaches:
  • Surgical repair of a cleft palate will generally begin around age one. At that time, tubes will be placed in the eardrum if your child is prone to fluid buildup in the ear.
Feeding and breathing:
  • Cleft palate can cause difficulty in breathing and eating for your infant. He or she might need a small tube placed though the nose into the upper airway. Generally, when the child can breathe better, feeding improves.
Heart:
  • If your baby has signs of a heart problem, an ultrasound can help see the extent of those problems.
Kidneys:
  • Some children with 22q11.2 deletion syndrome can have abnormally formed kidneys. An ultrasound can help determine if there are any problems with them.