Munson Health
DiGeorge Syndrome

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by McCoy K

(Velocardiofacial Syndrome; Chromosome 22q11 Deletion Syndrome)



Physical features of DiGeorge are present at birth. These features do not worsen with age. They may include:
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
  • Growth and developmental delays
  • Increased incidence of psychiatric disorders
  • Hypoparathyroidism—low levels of parathyroid hormone
  • Occasional abnormalities include structural brain defects, scoliosis, umbilical or inguinal hernias, kidney abnormalities, anogenital abnormalities, eye abnormalities, and thyroid problems


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.

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.


Immune Deficiency Foundation

National Center for Biotechnology Information



Canadian Association of Genetic Counsellors

Health Canada



22q11.2 deletion syndrome. EBSCO DynaMed website. Available at: Updated March 28, 2010. Accessed August 7, 2013.

DiGeorge syndrome. American Heart Association website. Available at: Updated April 26, 2011. Accessed August 7, 2013.

DiGeorge syndrome. Lucile Packard Children's Hospital at Stanford website. Available at: Accessed August 7, 2013.


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