22q11.2 Deletion Syndrome

22q11.2 deletion syndrome is rare and one of the most complex craniofacial conditions we treat. It can affect your child’s health and appearance in many ways. Our team is skilled at early diagnosis and treatment and we provide long-term follow-up care.

We offer:

  • Highly trained experts in 16 specialties who provide complete care for children with this condition.
  • The most advanced surgeries available to repair facial features.
  • Coordination with specialists closer to your home who can care for your child’s physical and emotional health.

Understanding 22q11.2 deletion syndrome

What is 22q11.2 deletion syndrome?

22q11.2 deletion syndrome is a rare genetic condition. We can manage and treat many of its symptoms, especially if we find it early. 

It is sometimes called DiGeorge syndrome, which is really one type of disorder that 22q11.2 deletion syndrome can cause.

This syndrome occurs when a small part of chromosome 22 is missing. Chromosomes are the part of our cells that contain our DNA. The name of the condition comes from the chromosome (22) and the location on the chromosome (q11.2) that are affected. A tiny piece that holds 30 to 40 genes is missing from the q11.2 part of chromosome 22.

22q11.2 deletion syndrome can affect child development in many ways. The condition can affect many parts of the body and can be mild or severe. Most children with this syndrome have some, not all, of the health issues related to it.

Common issues include:

  • Cleft palate or other problems that cause speech or hearing problems.
  • Unusual facial features.
  • Autoimmune disorders (conditions where the immune system attacks the body).
  • Congenital heart defects (heart problems that are present at birth).
  • Learning disabilities or behavior problems later in life.

Who gets 22q11.2 deletion syndrome?

Researchers think 22q11.2 deletion syndrome is the second most common genetic disorder, after Down syndrome. About 1 in 3,000 to 1 in 6,000 babies are born with it, according to the National Organization for Rare Disorders. In mild cases, signs and symptoms may be missed or mistaken for other conditions early in life.

In the past, some children with 22q11.2 deletion syndrome were diagnosed with other conditions like DiGeorge syndrome, velocardiofacial syndrome (Sedlackova syndrome) and conotruncal anomaly face syndrome. We now know that 22q11.2 chromosome deletion causes all of these syndromes.

What causes 22q11.2 deletion syndrome?

The syndrome is not caused by anything you did or didn’t do before or during pregnancy. It usually happens when genes change, or mutate, early in pregnancy. These changes are random.

In about 10% of cases, the syndrome is inherited from a parent who may not know they have the mutation. It is a dominant genetic condition. This means that someone with this mutation has a 50% chance of passing it on to their child.

Signs and symptoms of 22q11.2 deletion syndrome

Children with this syndrome often have unusual facial features or skeletal differences. These signs are easy for providers to recognize as possible signs of the syndrome. They may include

  • Small ears with a square-shaped upper ear
  • Hooded eyelids
  • Cleft palate, perhaps with cleft lip
  • Uneven facial appearance when crying
  • Small mouth, chin and side of the tip of the nose  
  • Extra fingers or toes

Other signs may not be visible right away or may not be recognized as signs of 22q11.2 deletion syndrome. These may include:

  • Congenital heart defects, some of which we can treat with surgery
  • Repeat ear infections or hearing loss
  • Problems with feeding, digestive issues or not gaining weight
  • Trouble breathing
  • Poor muscle tone
  • Delayed infant milestones like rolling over or sitting up
  • Delayed speech or nasal-sounding speech
  • Delayed growth
  • Learning delays or disabilities
  • Behavioral, emotional or attention issues at older ages

Symptoms of 22q11.2 deletion syndrome are similar to those of other syndromes including:

  • Smith-Lemli-Opitz syndrome (SLOS), a genetic disorder that limits the body’s ability to make cholesterol
  •  Alagille syndrome, a genetic liver disorder
  • VACTERL association, a pattern of birth defects that affect the spine, limbs, heart and digestive system
  • Oculo-auriculo-vertebral spectrum (OAVS), a group of three rare disorders that affect the eyes, ears and spine

Diagnosing 22q11.2 deletion syndrome

You may choose to be tested during pregnancy if your child is at a higher risk for 22q11.2 deletion syndrome. Risk factors include a parent who has the syndrome, or if a prenatal ultrasound shows a heart defect or other sign.

If tests show possible 22q11.2 deletion syndrome, we offer a lab test called fluorescent in situ hybridization (FISH). This test looks for small groups of missing genes. If the FISH test finds no deletion in the 22q11.2 region, then we can do a full chromosome study to look for other possible genetic issues.

Treatments for 22q11.2 deletion syndrome

There is no cure for 22q11.2 deletion syndrome, but many of the health issues it causes can be treated. Because patients have such varied symptoms, a team-based approach to treatment is best.

Our craniofacial team has specialists in 16 areas, giving us the expertise to provide leading care for your child. We will work with you to create a treatment plan that fits your child’s needs. We will support you and your child with treatment and follow-up care, often over many years.

A care plan for your child may include:

  • Immunology evaluation to help reduce your child’s infection risk.
  • Cardiology evaluation for treatment of a heart condition.
  • Treatment for cleft lip and cleft palate by a plastic surgeon and other specialists.
  • Care by speech pathologists, hearing specialists and ENT (ear, nose and throat) doctors who work together to treat speech, hearing and feeding issues.
  • An ongoing relationship with a pediatric psychologist to help with developmental concerns, behavioral issues and other challenges as your child grows.

Learn more

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Doernbecher Children’s Hospital
700 S.W. Campus Drive
Portland, OR 97239
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