22q11.2 Deletion Syndrome
(DiGeorge Syndrome; Velocardiofacial Syndrome)
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.
22q11.2 deletion syndrome is caused by missing genes in chromosome 22q11.2.
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
- 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
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The doctor may suspect 22q11.2 deletion syndrome at birth in a child that has certain features or health issues.
In others, the doctor will about your child's symptoms and health history. A physical exam will be done.
Blood tests will be done to look at genes and check the blood for signs of the disease.
Pictures may be taken to look for problems linked to the disease. This can be done with:
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
There are no guidelines to prevent this disease.
- 22q deletion syndrome. Nationwide Children's website. Available at: https://www.nationwidechildrens.org/conditions/22q-deletion-syndrome.
- 22q11.2 deletion syndrome. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/22q11-2-deletion-syndrome.
- 22q11.2 deletion syndrome. Stanford Children's Health website. Available at: http://www.stanfordchildrens.org/en/topic/default?id=22q112-deletion-syndrome-90-P01682.
- Kari Kuenn, MD
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