22q11.2 Deletion Syndrome

Answers to questions families often have about caring for their child with 22q11.2 deletion syndrome

young girl with 22q11 deletion syndrome stooping down as she smiles

What is 22q11.2 deletion syndrome?

22q11.2 deletion syndrome is a genetic disorder that may result in poor development of many body systems. It can affect every bodily function, and may affect people physically and mentally. Because of the wide variety of presentations, different subsets of the syndrome were given different names such as DiGeorge syndrome, velocardiofacial syndrome (VCFS), or Shprintzen syndrome (see other names at Synonyms for 22q11.2 Deletion Syndrome). However, these are all due to 22q11.2 deletion. Once thought to be an uncommon diagnosis, prevalence is now estimated at 1 in 4,000. [McDonald-McGinn: 2011]

How do you get 22q11.2 deletion syndrome?

22q11.2 deletion syndrome is caused by the deletion of a small piece of chromosome 22. The deletion happens most often as a random event when reproductive cells (eggs or sperm) are formed or in early fetal development. It is important to know that parents did not do anything to cause their child to have the condition.

In about 10% of cases, a child inherits the deletion in chromosome 22 from a parent. In inherited cases, other family members may be affected.

What are the symptoms?

People with this syndrome may have a wide range of presentations, which may differ among affected members of the same family. No two cases are the same. Common presentations include:

  • learning problems
  • congenital heart disease (particularly conotruncal malformations)
  • palatal abnormalities
  • hypocalcemia
  • feeding problems
  • gastroesophageal reflux
  • chronic otitis media
  • developmental delay/cognitive problems (especially in the areas of expressive language)
  • dental problems due to enamel defects
  • characteristic facial features
  • immune dysfunction
  • renal problems
  • clubfoot

Less common symptoms may include:

  • skeletal problems
  • hearing loss
  • eye abnormalities
  • growth hormone deficiency

Other conditions such as autism, ADHD, and schizophrenia may co-occur with 22q11.2 deletion.

How is it diagnosed?

Clinical findings were previously used to make the diagnosis of the various conditions caused by 22q11.2 deletion. Now, the diagnosis is based on genetic testing.

What is the expected outcome?

22q11.2 is a lifelong condition. Outcomes will depend on what aspects of the condition are present in the affected person. Because there are many different presentations, some children may become fully independent as adults while others may need full-time care. Many therapies and medical treatments are available to help with symptoms. The earlier these symptoms are detected, the more doctors can do to help. Ask your child's primary care doctor for more information.

Will anyone else in the family get 22q11.2 deletion syndrome?

If a child with 22q11.2 deletion syndrome inherited the mutation, any future children of the same parents would have a 50% chance of also having 22q11.2 deletion syndrome. However, most cases are sporadic (they occur due to a rare, random mutation) and subsequent children have no increased risk. Ask your child's doctor or a genetic counselor for an individualized answer.

What is the treatment?

Treatment will depend on the clinical problems your child has. Often your primary care doctor will recommend involving specialists to help diagnose and treat specific problems. Specialists may include a:

  • pediatric geneticist
  • otolaryngologist
  • cardiologist
  • endocrinologist
  • ophthalmologist
  • psychologist
  • nephrologist
  • immunologist

It is important to work with doctors who are familiar with the condition and are able to recommend appropriate treatments.

An Early Intervention Part C Program would be particularly helpful for children from birth through age two who are at risk for, or are showing, developmental delays. Services may include visits by therapists (physical, occupational, speech, vision, etc.) and specific programming for a disability. Some children with 22q11.2 deletion syndrome may need to see an orthopedic specialist because clubfoot and scoliosis are common.

In addition to treatment, families can teach social skills to help their child develop positive peer relationships and self-esteem.

How will my family’s life be changed?

The impact of 22q11.2 deletion syndrome will depend on the ways and the degree to which your child is affected. Children who are more medically complex may need more appointments, therapies, and medications to manage the condition. Early in life, the focus tends to be on acute medical problems, including heart disease, feeding problems, and those associated with palatal dysfunction. Additionally, many children with 22q11.2 deletion syndrome are regularly seen by an immunologist during their first year. Monitoring by immunology may be vital because some children are born without a thymus gland or with a partial thymus gland. Those without a thymus gland cannot receive live vaccines.

Delays in reaching developmental milestones need identification and attention. After the child reaches school age, the focus shifts to cognitive and behavioral problems. Even children with mild clinical manifestations may need close developmental monitoring and increased support for education as they become older.

While a diagnosis may be scary and confusing, many parents report that caring for their child gets easier with time. One parent said that raising a child with 22q11.2 deletion syndrome has changed the way she looks at life, taught her a great deal, and helped her to appreciate life more.

I have a daughter with 22q11.2 deletion syndrome who has significant learning problems. She recently told me that she was pregnant. Will she have children with similar problems?

Talk with a geneticist or genetic counselor for more details. In general, children of an individual with this syndrome have a 50/50 chance of having the syndrome themselves, so doctors may want to follow her pregnancy more closely than is typical. Cardiovascular physiology changes significantly with pregnancy and women with 22q11.2 deletion syndrome may benefit from prenatal or early intrapartum consultation by cardiology. Prenatal echocardiograms may be needed on a regular basis.

Prenatal testing can determine if the child has the syndrome. If testing is positive, your daughter should be followed during her pregnancy by a perinatologist and a prenatal geneticist to enable health care providers to anticipate any problems that may arise. Your daughter's child might be born with a serious cardiac problem that could be anticipated with adequate prenatal ultrasound. Doctors will examine the ultrasound very closely to check for any medical problems that may be caused by 22q11.2 deletion syndrome .


Information & Support

Related Portal Content
22q11.2 Deletion Syndrome
Assessment and management information for the primary care clinician caring for the child with 22q11.2 deletion syndrome.
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Clinical Trials Related to 22q11.2 Deletion Syndrome (clinicaltrials.gov)
Studies looking at better understanding, diagnosing, and treating this condition; from the National Library of Medicine.

Authors & Reviewers

Initial publication: October 2012; last update/revision: October 2020
Current Authors and Reviewers:
Author: Lynne M. Kerr, MD, PhD

Page Bibliography

McDonald-McGinn DM, Sullivan KE.
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Medicine (Baltimore). 2011;90(1):1-18. PubMed abstract