22q11.2-Related Disorders

What are 22q11.2-related disorders?

22q11.2-related disorders are caused by differences in part of chromosome 22, called the q11.2 region. Chromosomes contain genes, which tell our cells how to work and what proteins to make. There are 23 pairs of chromosomes in each cell of the body.

22q11.2-related disorders happen in at least 1 in 1,000 newborns.

The symptoms differ widely, even among members of the same family. There may be small differences in how your child’s eyelids, nose and ears look.

These conditions are linked to many health issues. They can affect your child’s growth, feeding, breathing, speaking, hearing, learning and mental health. But most children with 22q11.2-related disorders only have problems in some of these areas.

  • These disorders happen because of changes in the 22q11.2 part of chromosome 22. There may be extra genes, missing genes or genes in the wrong place.

    Your child may:

    • Be missing a small part of chromosome 22 (22q11.2 deletion syndrome).
    • Have extra genes in the q11.2 part of chromosome 22 (22q11.2 duplication syndrome).
    • Have changes near the q11.2 part of chromosome 22 (22q11.2 distal deletion disorder).
    • Have genes from 22q11.2 switch places with genes on another chromosome. This is called translocation.
    • Have a 22q11.2-related disorder and another genetic syndrome.

    Whether the genetic change is new or inherited varies:

    • For 90% of children with 22q11.2 deletion, this is a new genetic change (not passed down from a parent).
    • In 66% of children with 22q11.2 duplication, the genetic change is passed from a parent.

    When people with 22q11.2 related disorders become parents, they have a 50% chance of passing the condition to their child.

  • There are many older names for these conditions. These names were used before it was known that all are a form of the same condition.

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

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

22q11.2-Related Disorders at Seattle Children's

Many families have never heard of these conditions before their child’s diagnosis. Seattle Children’s has a clinic focused on caring for children with 22q11.2-related disorders.

Many of the babies and children we see are newly diagnosed. We also work with expectant parents who are worried about the results of tests during pregnancy.

Please call the Craniofacial Center at 206-987-2208 for more information, a second opinion or to make an appointment.

  • Our 22q Clinic is the only multidisciplinary clinic for children with 22q11.2-related disorders in the 5-state region that includes Washington, Alaska, Montana, Idaho and Wyoming. Our clinic team has been diagnosing these conditions and helping families care for their children since 2006.

    Our doctors are experienced in treating the problems caused by these conditions.

  • The 22q Clinic is part of Seattle Children’s Craniofacial Center. Our 50 specialists in 19 different fields meet weekly to discuss children with complex needs and decide on the best care plan for each child.

    A craniofacial pediatrician, medical geneticist, genetic counselor, nurse, family service coordinator and social worker will work closely with your family. They manage your child’s care and make sure all your questions are answered.

    Our 22q Clinic can easily form a team with the right experts to care for your child’s specific needs. These may include an audiologist; dietitian; ear, nose and throat specialist (otolaryngologist); feeding therapist; psychiatrist; and speech and language pathologist (SLP). They create a personalized plan of care for your child.

    If needed, your child will see experts in other departments at Seattle Children’s, for problems affecting their heart, mental health, hormones, nervous system, stomach and intestines, bones, kidneys and infection-fighting immune system. We work together, and with you and your family’s doctor, to care for your child.

  • A diagnosis of a 22q11.2-related disorder can be scary. We take time to explain your child’s condition. We help you fully understand your treatment options and make choices that are right for your family.

    Our child life specialists and social workers support your child and family through the challenges of their condition. We help you find community resources and support groups.

    As your child gets older, we include them in decisions about their medical care. Your family has a full team behind you, including specialists in nutrition, physical therapy and speech therapy. Read more about the supportive care we offer.

    Seattle Children’s provides craniofacial care for children in an area one-fourth the size of the continental U.S. We also treat children from across the globe. This has helped us develop systems to provide outstanding, personalized care at great distance.

Symptoms of 22q11.2-Related Disorders

Every child with a 22q11.2-related disorder is different.

Some children have facial differences, including:

  • Eyelids that look hooded
  • A nose that is tube-shaped
  • Ears that are folded over more than normal at the edges
  • A face that looks long, with flat cheeks
  • A narrow mouth

The 22q11.2-related disorders may cause problems with your child’s:

  • Roof of the mouth (palate), including cleft palate
  • Ears, nose or throat
  • Heart
  • Infection-fighting immune system
  • Nervous system
  • Kidneys
  • Skeleton
  • Hormone-producing endocrine system

These differences may affect your child’s growth, feeding, breathing, speaking, hearing, learning or mental health.

Diagnosing 22q11.2-Related Disorders

Seattle Children’s has a 22q Clinic focused on diagnosing these conditions and helping families manage them.

  • These conditions are sometimes diagnosed before birth. The tests use different samples:

    • An expectant mother’s blood, which includes DNA from the placenta. Noninvasive prenatal screening (NIPS) can identify some conditions. But many mothers whose test shows a risk of 22q11.2 conditions will go on to have a healthy child. Further testing is needed to confirm the diagnosis.
    • Amniotic fluid that surrounds and protects a baby in the womb (amniocentesis).
    • Part of the placenta, through a test called chorionic villus sampling (CVS).

    Further tests on CVS or amniotic fluid samples may detect the specific 22q11.2 disorder. The 2 tests are FISH and chromosomal microarray analysis (CMA). Genetic testing may include doing a karyotype to make sure parts of the chromosomes have not switched places with one another.

    The tests can show if your baby has missing, extra or misplaced genes in the q11.2 area of chromosome 22. But they can not 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 echo).

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

    Your doctor may recommend genetic tests to tell the type of 22q11.2 disorder your child has.

    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.

  • Geneticists and genetic counselors at our 22q Clinic will talk with you about the pros and cons of genetic testing and explain test results.

    Our counselors also can give you information about your child’s condition. Counseling can help you make informed decisions about family planning and your child’s treatment.

    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 the condition has a 50% chance in each pregnancy of passing it on to their child.

Treating 22q11.2-Related Disorders

The effects of these conditions vary greatly from child to child. We create a personalized care plan based on your child's specific needs.

Because of the high rates of problems in the following areas, most children with 22q11.2-related disorders will need to see providers with special training in:

These providers are all part of our coordinated 22q Team Clinic.

Depending on their medical problems and test results, your child may also need to see other specialists at Seattle Children’s.

  • Children with 22q11.2-related disorders may have a hard time feeding. This can be caused by problems with their mouth or throat:

    • Not having enough tissue (“insufficient”) in the palate or throat (velopharyngeal insufficiency, VPI)
    • A gap in the roof of the mouth (cleft palate)
    • A gap in the roof of the mouth that is covered by the lining of the mouth (submucosal 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 your baby is not able to get enough nutrition by bottle, they may need a tube from their nose to their stomach (NG tube). For most children, this is temporary and they are able to go back to feeding entirely by mouth after feeding therapy.
    • If feeding problems are severe, your doctor may recommend placing a tube through your child’s belly (abdominal wall) into the 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 surgeon will talk with you about repair.

    • Repairing 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.


    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 kids with 22q11.2 duplication are bigger than average.
  • Your 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. The treatments for these types of hearing loss are different.
    • Your doctor will determine if your child has hearing loss and will talk with you about treatment. Putting small tubes in your child’s ear drum is an option to keep the middle ear free of fluid.
  • 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 continue to check your child’s speech as they grow.

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

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

    • A custom-made speech appliance called an obturator.
    • Surgery on the roof of the mouth or throat. Your surgeon and speech pathologist will work together to recommend what is best for your child.
    • Speech therapy to develop correct speech sounds.
  • 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.

    If your child is healthy and growing well, it is not likely that they have a major heart problem. To check, your child’s doctor will order an ultrasound picture of your child’s heart (echocardiogram).

    If problems are found, your child will see a heart specialist (cardiologist) for care as needed. Learn more about Children’s Heart Center.

  • Many children with 22q11.2-related disorders have problems with their immune system, which helps protect their 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 avoid some vaccines with live viruses because their body is less able to fight infection.

    Learn more about 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 are looking to make sure that the kidneys formed normally. If your child has a normal ultrasound, they will not need another one.

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

    Learn more about Children’s Nephrology program.

  • Some children with these conditions have problems with low calcium levels. If calcium is too low it can cause seizures.

    We will do a blood test to check. Your doctor may decide your child needs to take a calcium supplement.

  • Many children with 22q11.2-related disorders have differences in how they learn and process information. Some children will have normal intelligence, and some will have intelligence that is below normal.

    Your child’s care team will make sure their learning style is tested. This helps us better understand how they process information. We will help your child’s school know 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 problems, a specialist will evaluate your child and suggest treatment to help them start school ready to learn. We 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:

    • Attention deficit hyperactivity disorder (ADHD)
    • Autism spectrum disorder
    • Anxiety
    • Depression
    • Bipolar disorder

    Many problems can be managed well if they are found early and treated by a doctor familiar with 22q11.2-related disorders.

    The type of 22q11.2-related disorder affects your child’s risk of mental health problems.

    • 22q11.2 duplication raises the risk of autism spectrum disorder and other problems affecting the brain and central nervous system (neurodevelopmental).
    • 22q11.2 deletion increases the chance that they will develop schizophrenia as teenagers or adults.

    Different types of mental health issues start at different times. We will regularly check your child’s behavior, mood and coping. Your healthcare team 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.

Contact Us 

Contact the Craniofacial Center at 206-987-0339 for an appointment, a second opinion or more information.

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