Below is a list of medical problems that your child may have.
Not every child with 22q11.2 deletion syndrome will have problems in all of these areas. A special plan and group of doctors will be assigned to your family based on your child's specific needs.
All members of the team may need to be involved in the care of a child with 22q11.2 deletion syndrome at different times.
Velocardiofacial Syndrome Treatment Options
Ear, nose and throat
If your child has cleft palate, our surgeon will talk with you about repairing the palate, usually when the child is 1 year old.
Children with 22q11.2 deletion syndrome may have frequent ear infections. Your doctor will follow your child's ear health 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, some babies may have difficulty with breast and bottle-feeding, and it will be important to make sure that your baby is gaining weight appropriately. A dietitian may see you in the clinic to review your child's diet.
Hearing
All newborns should have a hearing screening, usually performed in the birth hospital or within a few days of birth. If problems are found, further testing will be done.
Heart
Children with 22q11.2 deletion syndrome sometimes have problems with their heart. Your doctor may decide that your child needs an echocardiogram (ultrasound picture of the heart) to see if there are abnormalities.
This procedure is very easy and does not require needle pokes or medicine.
Kidneys
Rarely, children with 22q11.2 deletion syndrome have kidney problems. But we may recommend that your child have a 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 in the future. 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 cervical spine (neck) fit together. The craniofacial pediatrician will order X-rays of the cervical spine when the bones are well formed, when your child is at least 2 years old.
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.
Speech
Many children with 22q11.2 have differences in the muscles in the back of the mouth, which 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.
Teeth
Good oral hygiene is important for all children, but especially those with craniofacial disorders. 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 evaluate their condition.
Some children with velocardiofacial 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.