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by McCoy K
(DiGeorge Syndrome; Velocardiofacial Syndrome)

Definition

22q11.2 deletion syndrome is a rare disease that babies can have at birth. It is linked to groups of syndromes. The most common types are DiGeorge syndrome and velocardiofacial syndrome

Causes

22q11.2 deletion syndrome is caused by missing genes in chromosome 22q11.2.

Risk Factors

Your risk is raised if you have other people in your family with this syndrome.

Symptoms

Symptoms are from problems caused by 22q11.2 deletion. The lost genes result in a spectrum of problems in almost any part of the body.

Your child may have:

  • Heart problems
  • Immune system problems, which can lead to frequent or returning infections
  • Certain facial features, such as small ears, head, eyes, and jaw, hooded eyelids and a long face
  • Palate defects
  • Learning problems
  • Growth and developmental delays
  • Behavioral problems
  • Lack of calcium in the blood
  • Swallowing and feeding problems
  • Hearing loss
  • Nutrition problems
  • Mental health problems
  • Autoimmune conditions, such as arthritis
  • Abnormalities in body structures

Symptoms differ among children.

Organs of the Immune System
immune system
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Diagnosis

Your child's doctor may suspect 22q11.2 deletion syndrome if your child has certain features or health issues.

Your child may have:

Treatment

The goal of treatment is to manage health problems. There are many treatments that will be tailored to your child's needs. You will be referred someone who is an expert in treating the health problems your child has.

The earlier treatment starts, the better the outcomes. Your child may have:

Heart Defect Repairs

Heart defects can cause problems with how your child grows and develops.

Certain heart problems may need to be surgically repaired. This repair is often done in the first year of life. Other heart problems will need to be watched throughout your child's life.

Cleft Palate Repair

One or more surgeries may be needed to repair a cleft palate . Your child may also work with a speech therapist. This will help your child with feedings and speech delays.

Immune System Support

Some problems with the immune system can be severe. They may need to be treated right away.

If the thymus is missing, a thymic tissue transplant may be done. However, there are certain risks. The risks will be weighed against the benefits.

Other steps involve watching the immune system and treating infections.

Replacing Calcium

Calcium and vitamin D pills can help to increase calcium in the blood. A low phosphorous diet will also help.

Early Intervention

A variety of therapies may help:

  • Speech therapy—To help with feeding problems and speech
  • Occupational therapy—To help with everyday skills and self care.
  • Physical therapy—To help with physical tasks
  • Audiology—To check for and treat hearing loss
  • Growth programs—To help your child reach milestones.
  • Psychiatry—To work on mental health problems that may come up. Some may not have this until later in life.

Prevention

22q11.2 deletion syndrome can’t be prevented.

RESOURCES

Immune Deficiency Foundation  https://www.primaryimmune.org 

National Center for Biotechnology Information  https://www.ncbi.nlm.nih.gov 

CANADIAN RESOURCES

Canadian Association of Genetic Counsellors  https://www.cagc-accg.ca 

Health Canada  https://www.canada.ca 

References

22q11.2 deletion syndrome. EBSCO DynaMed website. Available at:  https://www.dynamed.com/topics/dmp~AN~T115146/22q11-2-deletion-syndrome  . Updated March 17, 2017. Accessed July 3, 2018.

22q11.2 deletion syndrome. Genetics Home Reference website. Available at: https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome. Updated July 2013. Accessed July 3, 2018.

22q11.2 deletion syndrome. Stanford Children's Health website. Available at: http://www.stanfordchildrens.org/en/topic/default?id=22q112-deletion-syndrome-90-P01682. Accessed July 3, 2018.

McDonald-McGinn DM, Emanuel BS, et al. 22q11.2 deletion syndrome. 1999 Sep 23 [Updated 2013 Feb 28]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1523. Accessed July 3, 2018.

What is 22q11.2 deletion syndrome? Nationwide Children's website. Available at: http://www.nationwidechildrens.org/22q-signs-and-symptoms. Accessed July 3, 2018.

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