DiGeorge syndrome is a rare genetic disease. It is present at birth. This genetic disease can cause a wide range of symptoms and health problems. Some may have mild symptoms while other are severe. People with complete DiGeorge syndrome have no thymus or parathyroid glands. The thymus plays an important role in the immune system. The parathyroid glands help control calcium in the blood and body.
Thyroid and Parathyroid Glands
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DiGeorge syndrome is caused by a deletion of several genes. The lost genetic material controls the development of the thymus and related glands.
Physical features of DiGeorge are present at birth. These features do not worsen with age. They may include:
Other symptoms may include:
DiGeorge may also be associated with other health issues such as:
Your doctor will ask about symptoms and medical history. A physical exam will be done. If your child has certain heart defects or other DiGeorge related symptoms, genetic tests may be ordered.
The doctor may order other tests. These tests may help to see what problems DiGeorge may be causing. Test may include:
Treatment will be based on the symptoms your child has. Talk with your doctor about the best treatment plan. Some options include:
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.
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 the child's life. addressed in the first year of 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.
The 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:
In general, the earlier these therapies start the better the outcomes.
RESOURCES:
Immune Deficiency Foundation
http://www.primaryimmune.org
National Center for Biotechnology Information
http://www.ncbi.nlm.nih.gov
CANADIAN RESOURCES:
Canadian Association of Genetic Counsellors
http://www.cagc-accg.ca/
Health Canada
http://www.hc-sc.gc.ca/
References:
DiGeorge syndrome. American Heart Association website. Available at: http://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/DiGeorge-Syndrome_UCM_309017_Article.jsp . Accessed December 12, 2012.
DiGeorge syndrome. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php . Updated March 28, 2010. Accessed December 12, 2012.
DiGeorge syndrome. Lucile Packard Children's Hospital at Stanford website. Available at: http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/diabetes/digeorge.html . Accessed December 12, 2012.
Jones KL. Smith’s Recognizable Patterns of Human Malformations . 6th ed. Philadelphia PA: Elsevier Saunders; 2006.
Kleigman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics . 18th ed. Philadelphia PA: Saunders; 2007.
Last reviewed December 2012 by Michael Woods, MD
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.
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