What Is 22q11.2 Deletion Syndrome (DiGeorge Syndrome)?

22q11.2 deletion syndrome is a genetic condition that some babies are born with. A genetic condition happens when there is a problem with a part of a child's DNA. 22q11.2 deletion syndrome can affect many different systems in the body. The problems it causes can range in severity.

22q11.2 deletion syndrome is called 22qDS or 22q for short. Older names for the same genetic difference include DiGeorge syndrome, velocardiofacial syndrome (VCFS), Shprintzen syndrome, conotruncal anomaly face syndrome, and Caylor cardiofacial syndrome.

What Causes 22q11.2 Deletion Syndrome (DiGeorge Syndrome)?

People diagnosed with 22q are missing a piece of DNA from the 22nd chromosome. The missing DNA includes several genes that affect how the body develops.

Most often, 22q deletion syndrome happens because of a random gene mutation (change) in the early stages of pregnancy. But it also can be inherited (passed down from a parent to their child).

What Are the Signs & Symptoms of 22q11.2 Deletion Syndrome (DiGeorge Syndrome)?

The body systems affected are different in each person. Some children with 22q will have one or two symptoms, and others will have several more.

Symptoms can include:

• heart problems
• delays in walking and talking
• feeding problems
• nasal sounding speech (velopharyngeal dysfunction, or VPD)
• submucous cleft palate (may look like a split or double uvula in the back of the throat)
• hearing problems
• an unusual shape or position of the eyes, ears, nose, mouth, and jaw
• problems with the shape of the spine
• low levels of some hormones
• seizures
  
• slow growth
• frequent infections
• autism spectrum disorder
• trouble interacting with peers
• some types of mental health conditions (older children or teenagers)
• learning problems
• vision problems
• dental problems

How Is 22q11.2 Deletion Syndrome (DiGeorge Syndrome) Diagnosed?

Doctors do genetic tests to confirm a diagnosis of 22q. This may happen:

Before birth. If a pregnant woman has a family history of 22q or a prenatal test shows the developing baby could have 22q, the doctor will usually do such tests as:

• an ultrasound scan of the heart (fetal echocardiogram)
• magnetic resonance imaging (fetal MRI)

After a baby is born. If a new baby shows signs of 22q, the doctor will examine the baby and ask about any medical conditions that run in the family.

The doctor may order tests, such as:

• CT (computed tomography) scans
• a heart ultrasound (echocardiogram)
• a check of calcium levels and infection-fighting cells in the baby's blood
• genetic tests of the baby, siblings, and parents

Later in life. Some people with 22q are diagnosed when they are older through genetic testing.

How Is 22q11.2 Deletion Syndrome (DiGeorge Syndrome) Treated?

Some children may need surgery soon after birth to fix problems related to their heart, breathing, or feeding. All children with 22q need regular visits with a team of specialists to do routine checks.

This team often includes doctors with special training in:

• bones (orthopedic surgery)
• ear, nose, and throat problems (otolaryngology)
• eye problems (ophthalmology)
• genetics
• growth and learning (developmental pediatrics)
• hearing (audiology)
• heart problems (cardiology)
• hormone and mineral balance (endocrinology)
• infection-fighting (immunology)
• kidney problems (nephrology, urology)
• brain and nervous system issues (neurology and neurosurgery)
• mental health (psychology and psychiatry)
• behavior issues (behavioral psychology)
• nasal speech (VPD) (speech-language therapy, a pediatric craniofacial surgeon)
• learning problems and cognitive issues (neuropsychology)

How Can Parents Help?

If your child has 22q:

Find a team that specializes in 22q. Not every hospital has all the providers needed to assess and manage a child with 22q. You can look online to find a 22q center at:

• International 22q11.2 Foundation, Inc.
• 22q Family Foundation
• American Cleft Palate and Craniofacial Association

Go to all medical visits. Take your child to all scheduled checkups and any follow-up visits with specialists.

Set up therapy care when needed. Help your child build and strengthen life skills. Set up speech therapy and physical therapy visits, or other care that doctors and nurses recommend. If your child has a hard time paying attention, or feels anxious or sad often, ask the doctor if therapy with a mental health provider could help.

Connect with others for support and awareness. Join a 22q support group to find other parents who share similar experiences.