• 22q11.2 Deletion Syndrome

    (DiGeorge 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.

    Revision Information

  • LiveWell personal health survey

    How healthy are you really? Find out – free.Learn more

    It's time to stop guessing. If you want to make some changes but just aren't sure how, the free personal health survey from LiveWell is a great place to start.

  • HeartSHAPE Spotlight

    At risk for a heart attack? Learn more

    Fight heart disease and prevent heart attacks. HeartSHAPE® is a painless, non-invasive test that checks pictures of your heart for early-stage coronary disease.

  • Calories and Energy Needs

    Calorie NeedsLearn more

    How many calories do you need to eat each day to maintain your weight and fuel your physical activity? Enter a few of your stats into this calculator to find out.

  • Ideal Body Weight

    Ideal Body WeightLearn more

    Using body mass index as a reference, this calculator determines your ideal body weight range. All you need to do is enter your height.

  • Body Mass Index

    Body Mass IndexLearn more

    This tool considers your height and weight to assess your weight status.


  • Can we help answer your questions?

    Wellmont Nurse Connection is your resource for valuable health information any time, 24 hours a day, seven days a week. Speak to a Nurse any time, day or night, at (423) 723-6877 or toll-free at 1-877-230-NURSE.