DiGeorge syndrome is a rare genetic disease. It is present at birth. 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.
Parathyroid glands are located on the thyroid gland in the neck.
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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.
DiGeorge may run in some families, but most have no family connection.
Physical features of DiGeorge are present at birth. These features do not worsen with age. They may include: Elongated faceHooded eyelidSmall eyesSmall jawWide noseSmall
earsSmall headCleft palate
Other symptoms may include: Weak musclesShort heightTapered and hyperextensible fingersLearning difficulties
DiGeorge may also be associated with other health issues, such as: Immune deficiency leading to increased infectionsHeart defectsGrowth and developmental delaysIncreased incidence of psychiatric disordersHypoparathyroidism—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
You will be asked about your child's 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.
Your child's bodily fluids may be tested. This can be done with blood tests.
Images may be taken of your child's bodily structures. This can be done with: Chest x-rayMRI scanEchocardiogram
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.
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: 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.
There are no current guidelines to prevent DiGeorge 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.
22q11.2 deletion syndrome. EBSCO DynaMed website. Available at:
Updated November 18, 2015. Accessed June 6, 2016.
22q11.2 deletion syndrome. Stanford Children's Health website. Available at:
Accessed June 6, 2016.
DiGeorge syndrome. American Heart Association website. Available at:
Updated April 26, 2011. Accessed June 6, 2016.
Last reviewed June 2016 by Kari Kassir, 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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