Share this page

Health Library

22q11.2 Deletion Syndrome(DeGeorge Syndrome; Velocardiofacial Syndrome)
Definition

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

Causes

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.

Risk Factors

22q11.2 deletion may run in some families, but most have no family connection.

Symptoms

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.

Organs of the Immune System

immune system

Copyright © Nucleus Medical Media, Inc.

Diagnosis

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

Tests may include:

Treatment

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 Defect Repairs

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.

Cleft Palate Repair

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.

Immune System Support

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.

Hypoparathyroidism Management

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.

Early Intervention

A variety of early intervention therapies may help your child including:

  • Speech therapy—To help with feeding problems and speech development.
  • Occupational therapy—To help with everyday skills and personal care.
  • Physical therapy—To address physical challenges.
  • Audiology—To check for and treat hearing loss
  • Developmental programs—To help your child reach appropriate developmental milestones.
  • Psychiatry—To address psychological challenges that may arise. Some may not develop until later in life.
Prevention

There are no current guidelines to prevent 22q11.2 deletion syndrome. If it runs in your family, you may consider genetic screening tests. If you are pregnant, talk to your doctor about prenatal care and screening tests.

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: 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.

Baptist Flame

Baptist Health Systems

1-800-948-6262

Find A Doctor

Services

Locations

Baptist Medical Clinic

Patients & Visitors

Learn

Contact Us

Physician Tools

Careers at Baptist

Employee Links

Online Services

At Baptist Health Systems

At Baptist Medical Center

close ×