22q11.2 deletion syndrome is a rare genetic disease that presents at birth. The defect is associated with groups of syndromes that were thought to be separate disorders. The most common types are DiGeorge syndrome and velocardiofacial syndrome
22q11.2 deletion syndrome is caused missing genes on a specific chromosome. The lost genetic material results in a spectrum of different complications that can affect almost any part of the body. Abnormalities of the heart, immune system, facial features, and learning and development are common.
Symptoms are related to complications caused by 22q11.2 deletion. These include:
It is important to note that symptoms vary widely among children. In most cases, children do not have every health problem.
Your child's doctor may suspect 22q11.2 deletion syndrome if certain features or health issues are present.
Tests may include:
The goal of treatment is to manage complications. There are a variety of treatments available that will be tailored to your child's needs. You will be referred the specialist that is expert in treating any of these specific problem.
In general, the earlier treatment starts, the better the outcomes. Common treatments include:
Heart defects can impair growth and development.
Certain heart defects may need to be surgically repaired. This repair is often done in the first year of life. Other heart defects will need to be monitored throughout your child's life.
A surgery or series of surgeries may be needed to repair a cleft palate. Your child may also work with a speech therapist. The therapist will help your child with feedings and speech delays.
Some immune system problems can be severe. They may require immediate treatments.
If the thymus is missing, a thymic tissue transplant may be done. A bone marrow transplant may also help boost the immune system. However, there are certain risks for these procedures. The risks will be weighed against the benefits.
Other steps involve monitoring the immune system and treating infections.
Missing parathyroid glands can affect the level of calcium in the body and blood. Calcium and vitamin D supplements can help to make up for low parathyroid levels. A low phosphorous diet will also help. Talk to your doctor or a dietitian about changes to your child's diet.
A variety of early intervention therapies may help your child including:
Immune Deficiency Foundation
National Center for Biotechnology Information
Canadian Association of Genetic Counsellors
22q11.2 deletion syndrome. EBSCO DynaMed website. Available at: http://www.dynamed.com/topics/dmp~AN~T115146/22q11-2-deletion-syndrome. Updated March 17, 2017. Accessed September 1, 2017.
22q11.2 deletion syndrome. Genetics Home Reference website. Available at: https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome. Updated August 29, 2017. Accessed September 1, 2017.
222q11.2 deletion syndrome. GeneReviews website. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1523. Updated February 28, 2013. Accessed September 1, 2017.
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 September 1, 2017.
What is 22q11.2 deletion syndrome? Nationwide Children's website. Available at: http://www.nationwidechildrens.org/22q-signs-and-symptoms. Accessed September 1, 2017.
Last reviewed September 2017 by EBSCO Medical Review Board Michael Woods, MD FAAP
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.