22q11.2 deletion syndrome is a disease seen at birth that affects many parts of the body. It is rare.
It is linked to groups of syndromes. The most common types are DiGeorge syndrome and velocardiofacial syndrome.
The risk of this problem is higher in babies who have other family members who have it.
Problems differ among children. The missing genes can result in problems in almost any part of the body. A child may have:
- Bluish skin due to problems with blood flow through the heart
- Frequent infections
- Abnormalities in body structures, such as facial features and the mouth
- Learning problems
- Slowed growth
- Swallowing and feeding problems
- Problems hearing
- Behavioral and mental health problems
- Arthritis and other autoimmune problems
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The doctor may suspect 22q11.2 deletion syndrome at birth in a child that has certain features or health issues.
The doctor may ask about your child's symptoms and health history. A physical exam will be done.
A genetic test can be done to confirm the diagnosis. Other tests may be:
There is no cure. The goal is to manage health problems. How it is done depends on the problems that a child has. Some choices are:
- Increasing calcium in the blood with supplements
- Early intervention therapies, such as speech, occupational, and physical therapy
- Surgery to:
- Repair heart defects
- Repair a cleft palate
- Transplant thymic tissue to improve immune system function
Immune Deficiency Foundation https://www.primaryimmune.org
National Center for Biotechnology Information https://www.ncbi.nlm.nih.gov
Canadian Association of Genetic Counsellors https://www.cagc-accg.ca
Health Canada https://www.canada.ca
22q11.2 deletion syndrome. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/22q11-2-deletion-syndrome. Accessed November 2, 2020.
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 November 2, 2020.
McDonald-McGinn DM, Sullivan KE, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015 Nov 19;1:15071.
What is 22q11.2 deletion syndrome? Nationwide Children's website. Available at: http://www.nationwidechildrens.org/22q-signs-and-symptoms. Accessed November 2, 2020.
- Reviewer: EBSCO Medical Review Board Kari Kassir, MD
- Review Date: 09/2020
- Update Date: 05/05/2021