22q11.2-Related Disorders

There are many older names for these conditions. These names were used before doctors knew that all are a form of the same condition.

All of these names have been replaced with “22q11.2-related disorders”:

• Velocardiofacial syndrome (VCFS)
• DiGeorge syndrome
• Shprintzen syndrome
• Conotruncal anomaly unusual face syndrome
• Cayler cardiofacial syndrome
• Catch 22 syndrome

These conditions are sometimes diagnosed before birth. 

Pregnant people commonly have a blood test called noninvasive prenatal screening (NIPS), noninvasive prenatal test (NIPT) or cell-free DNA test. This screening test may show if a fetus is at risk for certain conditions, including 22q11.2-related disorders. But it doesn’t provide a definite diagnosis, and many parents go on to have a healthy child even though their test showed a risk of 22q11.2 conditions.

To confirm the diagnosis, doctors use:

• Amniocentesis to check fluid that surrounds a baby in the womb
• Chorionic villus sampling (CVS) to check cells from the placenta  

Further tests on amniotic fluid or CVS samples may detect a specific 22q11.2 disorder. The 2 most common tests are called fluorescence in situ hybridization (FISH) and chromosomal microarray analysis (CMA). Genetic testing may include doing a karyotype to check if parts of the chromosomes have switched places with one another.

The tests can show if your baby has missing or extra genes in the q11.2 area of chromosome 22, but they cannot tell how much these genetic changes will affect your baby.

To look for specific problems, your child may have a detailed ultrasound or fetal heart scan (fetal echocardiogram).

The doctor will check your child and look for differences that are linked with 22q11.2-related disorders. Because the symptoms differ from child to child, a careful exam is important.

The doctor may recommend a genetic test if your child has signs of a 22q11.2-related disorder. Several genetic tests can identify these disorders, including fluorescence in situ hybridization (FISH), chromosomal microarray analysis (CMA), or multiplex ligation-dependent probe amplification (MLPA) of the 22q11.2 region; exome sequencing (PDF); genome sequencing (PDF); and others.

Doctors may order other tests or procedures to learn more about your child’s exact condition. For example, an ultrasound picture of their heart (echocardiogram) can show if they have any heart problems.

Doctors and genetic counselors at our 22q Clinic can explain what your child’s test results mean and if your child needs any other genetic tests.

A genetic counselor will also give you information about your child’s condition. Counseling can help you make informed decisions about family planning and your child’s care.

Our genetic counselors also advise people with 22q11.2-related disorders about their chance of having a child with a similar condition. A person with a 22q11.2-related disorder has a 50% chance in each pregnancy of passing it on to their child. There are many different family planning options that people with a genetic condition may consider.

Children with 22q11.2-related disorders may have a hard time feeding. This can happen because of problems with their mouth or throat:

• Not having enough tissue in their palate or throat (velopharyngeal insufficiency, VPI)
• A gap in the roof of their mouth (cleft palate)
• A gap in the roof of their mouth that is covered by the lining of the mouth (submucous cleft palate)

Our Feeding Management team can help. A dietitian may advise you about your child's diet.

• We can teach you ways to feed your baby and recommend special bottles to use if needed.
• If your baby is not able to get enough nutrition by bottle, they may need a feeding tube from their nose to their stomach (nasogastric [NG] tube). For most children, this is temporary, and they go back to feeding by mouth after feeding therapy.
• If feeding problems are severe, your child’s doctor may recommend placing a feeding tube through your child’s belly (abdominal wall) into their stomach. This is called a gastrostomy tube or G-tube.

Palate repair

If your child has problems with the roof of their mouth or throat, your child’s surgeon will talk with you about surgery. Sometimes a child needs surgery because of a gap in the roof of their mouth (cleft palate). In other cases, doctors may recommend surgery because of a speech problem called velopharyngeal dysfunction (VPD).

• Surgery to close a gap in the roof of the mouth (cleft palate) usually happens when your child is about 1 year old. See Cleft Palate Treatments.
• Other problems with the mouth or throat, such as velopharyngeal dysfunction (VPD), are treated when your child is older than 1 year.

Growth

We will check regularly to make sure your child is growing well.

• Children with 22q11.2 deletion syndrome often have a different and slower pattern of growth than other children. We compare your child to growth charts specific to 22q11.2 deletion syndrome.
• Usually, children with 22q11.2 duplication are bigger than average.

Your child’s doctor will check your child’s ear health and hearing regularly.

• Most often, your baby’s hearing is tested soon after birth or within a few days.
• If there are concerns, we do more tests. A specialist trained to test hearing in babies and children (audiologist) will do the testing.
• Some children have hearing loss. It may be caused by fluid behind the eardrums or by problems with the nerve pathways from the inner ear to the brain. 
• Your doctor will find out if your child has hearing loss and will talk with you about treatment options.    

In some children, differences in the mouth or throat cause problems with speech.

By age 2, a speech and language pathologist (SLP) will regularly check your child’s ability to make speech sounds. Our team will keep checking your child’s speech as they grow.

Some children have a condition called velopharyngeal dysfunction (VPD). This makes it hard for them to make typical speech sounds. VPD may develop over time in a child who had a cleft palate repaired. 

Based on your child’s needs, we may recommend:

• Speech therapy to develop more typical speech sounds.
• Surgery on the roof of the mouth or throat. Your child’s surgeon and SLP will work together to recommend what is best for your child.
• A custom-made speech appliance (device that goes in your child's mouth) called an obturator.

Problems in the heart are common in children with 22q11.2-related disorders. The problem could be mild, like an unusual sound heard during a heartbeat (heart murmur). Sometimes it is serious enough to affect how the heart works.

To check if your child has a heart condition, your child’s doctor will order an ultrasound of your child’s heart (echocardiogram). If it shows a problem, your child will see a heart specialist (cardiologist) for care as needed.

Learn more about Seattle Children’s Heart Center.

Many children with 22q11.2-related disorders have problems with their immune system. The immune system helps protect the body from sickness.

We will check the number of infection-fighting white cells in your child’s blood. We may send your child to a doctor who specializes in the immune system (immunologist).

If your child’s immune system does not work well, they may:

• Be more likely to get infections. We will watch for signs of an infection and treat it quickly. Rarely, children need to take antibiotics or other treatments to prevent infection.
• Need extra doses of vaccines to build enough protection against disease.
• Need to postpone some vaccines with live viruses because their body is less able to fight infection.

Learn more about Seattle Children’s Immunology program.

Some children with 22q11.2-related disorders have kidney problems. We may recommend that your child have a kidney (renal) ultrasound.

We do this to check if the kidneys formed in the typical way. If your child’s kidneys look typical, they will not need another renal ultrasound.

If there is a problem, your child will see a kidney specialist (nephrologist).

Learn more about Seattle Children’s Nephrology program.

Some children with 22q-related disorders have problems with low calcium levels. If calcium is too low it can cause seizures.

We will do a blood test to check your child's calcium level. Your child's doctor may decide your child needs to take a calcium supplement or see an endocrinologist.

Many children with 22q11.2-related disorders have differences in how they learn and process information. Some children will have typical intelligence, and some will have lower intelligence.

Your child’s care team will make sure their development is assessed when they are infants and toddlers, and their learning style is tested when they are school aged. This helps us better understand how your child processes information. We will help make sure your child’s development is well supported and your child’s school knows the best ways to support your child’s learning.

Some children with 22q11.2-related disorders will have trouble learning because of attention deficit hyperactivity disorder (ADHD), anxiety or autism spectrum disorder. If your child develops any of these conditions, a specialist will evaluate your child and suggest services to help them start school ready to learn. We will also work with you to find resources in your community if needed.

22q11.2-related disorders increase the risk of problems with behavior and mental health. These include:

• Anxiety
• ADHD
• Autism spectrum disorder
• Bipolar disorder
• Depression
• Schizophrenia 

Many of these conditions can be managed well if they are found early and your child gets care from a doctor familiar with 22q11.2-related disorders.

Different types of mental health conditions begin at different times. We will regularly check your child’s behavior, mood and coping. We will ask about your child’s behavior at home and school.

If there are concerns, a psychiatrist or neurodevelopmental specialist will evaluate your child and recommend treatment. Your craniofacial pediatrician and social worker will work with you to find resources in your community if needed.