DiGeorge syndrome (22q11.2 deletion syndrome)

Diagnosis

A diagnosis of DiGeorge syndrome (22q11.2 deletion syndrome) is based primarily on a lab test that can detect the deletion in chromosome 22. Your child's healthcare professional likely will order this test if your child has:

• A mix of medical problems or conditions suggesting 22q11.2 deletion syndrome.
• A heart problem because certain heart problems are commonly related to 22q11.2 deletion syndrome.

In some cases, a child may have a mix of conditions that suggest 22q11.2 deletion syndrome, but the lab test doesn't suggest a missing portion of chromosome 22.

Treatment

Although there is no cure for DiGeorge syndrome (22q11.2 deletion syndrome), treatments usually can correct critical problems, such as a heart problem or cleft palate. Other health issues, as well as developmental, mental health or behavioral problems, can be dealt with or watched as needed.

Treatments and therapy for 22q11.2 deletion syndrome may include treatments for:

• Hypoparathyroidism. Taking calcium and vitamin D supplements as directed by your healthcare professional often can manage hypoparathyroidism. In some cases, other supplements also may be recommended.
• Heart problems. Most heart problems related to 22q11.2 deletion syndrome require surgery soon after birth to repair the heart and make the supply of oxygen-rich blood better.
• Limited thymus gland function. If your child has some thymic function, infections may be frequent but not necessarily severe. These infections — usually colds and ear infections — generally are treated as they would be in any child. Most children with limited thymic function follow the usual vaccination schedules. Immune system function improves with age for most children whose thymus has been moderately harmed.
• Severe thymus dysfunction. If the harm to the thymus is severe or there's no thymus, your child is at risk of several severe infections. Treatment may require a transplant of thymus tissue and specialized cells from bone marrow or specialized disease-fighting blood cells.
• Cleft palate. A cleft palate or other unusual features of the palate and lip usually can be repaired by surgery.
• Overall development. Your child likely will benefit from a range of therapies, including speech therapy, occupational therapy and developmental therapy. In the U.S., early intervention programs providing these types of therapy usually are available through a state or county health department.
• Mental health care. Treatment may be recommended if your child is later diagnosed with attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, depression, or another mental health or behavioral condition.
• Management of other conditions. These conditions may include feeding and growth issues, hearing or vision problems, and other medical conditions.

Healthcare team

Because 22q11.2 deletion syndrome can lead to so many problems, several specialists likely will help diagnose specific conditions, recommend treatments and provide care. This team will change as your child's needs change.

Specialists on your child's care team may include these professionals and others, as needed:

• Children's health specialist, also known as a pediatrician.
• Expert in inherited conditions, also known as a geneticist.
• Heart specialist, also known as a cardiologist.
• Immune system specialist, also known as an immunologist.
• Ear, nose and throat specialist, also called an ENT.
• Infectious diseases specialist.
• Hormone condition specialist, also known as an endocrinologist.
• Surgeon who specializes in fixing conditions such as a cleft palate, also known as an oral and maxillofacial surgeon.
• Surgeon who specializes in correcting heart problems, also known as a cardiovascular surgeon.
• Occupational therapist to build practical, everyday skills.
• Speech therapist to improve the ability to speak.
• Developmental therapist to develop age-appropriate behaviors and social skills.
• Mental health professional, such as a pediatric psychiatrist or psychologist.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Coping and support

Having a child with DiGeorge syndrome (22q11.2 deletion syndrome) is challenging. You could be dealing with multiple health issues and treatments. To help meet your child's and your own needs, ask the healthcare team about organizations that provide educational materials, support groups and other resources for parents of children with 22q11.2 deletion syndrome.

Preparing for your appointment

Your child's doctor or other healthcare professional may suspect DiGeorge syndrome at birth. If so, tests and treatment likely will begin before your child leaves the hospital.

Your child's healthcare professional will look for developmental problems at regular checkups and talk about any concerns. It's important to take your child to all regularly scheduled well-baby visits and annual appointments.

Here's some information to help you prepare for your child's appointment.

What you can do

If your family healthcare professional or pediatrician believes that your child shows signs of 22q11.2 deletion syndrome, basic questions to ask include:

• What tests will be needed?
• When will we get the test results?
• What specialists will you refer my child to?
• What medical conditions related to this syndrome need to be dealt with now? What medical condition is most important?
• How will you help me watch for problems with my child's health and development?
• Can you suggest educational materials and local support services about this syndrome?
• What services are available for early childhood development?

What to expect from your doctor

Be prepared to answer questions the healthcare professional may ask, such as:

• Does your baby have any problems feeding?
• Does your baby seem listless, weak or sick?
• Is your child reaching certain milestones in development, such as rolling over, pushing up, sitting up, crawling, walking or speaking?
• Do you see any behaviors that concern you?

Being ready for these questions will help you make the most of your time with your child's healthcare professional.