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DiGeorge Syndrome

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DiGeorge Syndrome

(Velocardiofacial Syndrome; Chromosome 22q11 Deletion Syndrome)

Definition

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
thyroid gland small image
Thyroid parathyroid gland (small image)
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Causes

DiGeorge syndrome is caused by a deletion of several genes. The lost genetic material controls the development of the thymus and related glands.

Risk Factors

DiGeorge may run in some families but most have no family connection.

Symptoms

Physical features of DiGeorge are present at birth. These features do not worsen with age. They may include:
  • Elongated face
  • Almond-shaped eyes
  • Wide nose
  • Small ears
  • Small head
  • Cleft palate
Other symptoms may include:
  • Weak muscles
  • Short height
  • Tapered and hyperextensible fingers
  • Learning difficulties
DiGeorge may also be associated with other health issues such as:
  • Immune deficiency leading to increased infections
  • Heart defects
  • Failure-to-thrive
  • Increased incidence of psychiatric disorders
  • Hypoparathyroidism
  • Occasional abnormalities include structural brain defects, scoliosis , umbilical or inguinal hernias , kidney abnormalities, anogenital abnormalities, eye abnormalities, and thyroid problems

Diagnosis

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:
  • Blood tests—to look for immune problems and rule out other conditions
  • Chest x-ray —to look for thymus
  • Echocardiography—to examine the heart

Treatment

Treatment will be based on the symptoms your child has. Talk with your doctor about the best treatment plan. Some options include:

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.

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 the child's life. addressed in the first year of 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.

Hypoparathyroidism Management

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.

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 an personal care.
  • Physical therapy—to address physical challenges.
  • 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.
In general, the earlier these therapies start the better the outcomes.

Prevention

There is no known way to prevent DiGeorge syndrome.

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%5FUCM%5F309017%5FArticle.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.

Revision Information

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.

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