Chromosomal and Genetic Conditions

22q11.2 Deletion Syndrome Treatment

Below is a list of common medical problems that your child may have.

Not every child with 22q11.2 deletion syndrome will have problems in all of these areas. We will create a special plan and assign a group of doctors to your family based on your child's specific needs through our 22q Clinic.

All members of the team may need to be involved in the care of a child with 22q11.2 deletion syndrome at different times.

22q11.2 Deletion Syndrome Treatment Options

Ear, nose and throat

If your child has cleft palate, our surgeon will talk with you about repairing the palate. We usually do this when your child is about 1 year old.

Children with 22q11.2 deletion syndrome may have frequent ear infections. Your doctor will follow your child's ear health and hearing closely.

Feeding and breathing

Your doctor will pay special attention to your baby's breathing and eating during infancy.

Because of differences in the palate, it may be hard for some babies to breast- and bottle-feed. It will be important to make sure that your baby is gaining weight as they should be. A dietitian may see you in the clinic to review your child's diet.


All newborns should have a hearing screening. This is usually done in the birth hospital or within a few days of birth. If problems are found, more testing will be done.


Children with 22q11.2 deletion syndrome sometimes have problems with their heart. Your doctor may decide that your child needs an ultrasound picture of their heart (echocardiogram) to see if there are any problems.

This procedure is very easy and does not require needle pokes or medicine.


Rarely, children with 22q11.2 deletion syndrome have kidney problems. But we may recommend that your child have a kidney (renal) ultrasound.

We are looking to make sure that the kidneys were formed normally. If your child has a normal ultrasound, they will not need another kidney ultrasound. This study is very easy and most times takes less than 20 minutes.

Musculoskeletal system

Some children may have differences in their hands and feet, such as tapered fingers or extra toes.

Sometimes, children with 22q11.2 have differences in the way that the bones of the neck (cervical spine) fit together. When your child is at least 3 years old, the craniofacial pediatrician will order X-rays of the cervical spine. Doctors must wait until the bones are well formed before they will be able to see any problems.

Your pediatrician may recommend further studies if the X-rays show changes in your child. This study is easy and does not require needle pokes or medicine.


Many children with 22q11.2 deletion syndrome have differences in the muscles in the back of the mouth. This can lead to differences in the way they speak (called velopharyngeal insufficiency).

If you or your doctors have concerns about your child's speech, your child will be referred to a speech pathologist.


Good oral hygiene is important for all children, but especially for those with conditions that affect the head and face. You will meet our dentist and/or orthodontist to discuss these issues.

Other health issues

Sometimes, children with 22q11.2 deletion syndrome have problems with their infection-fighting cells.

Some children can also have problems with low calcium levels. If your child has not already been tested, we will recommend a blood test to check for these conditions.

Some children with 22q11.2 deletion syndrome have differences in the ways that they learn and process information. When there is a concern about development and/or learning, we may recommend that your child have formal testing by a psychologist.

When there are concerns about a child's behavior, mood or coping, a referral to a psychologist may also be helpful. These evaluations can provide information that can be helpful in finding resources in your community.

If your child has other issues that require treatment, your pediatrician will discuss them with you and your family.