(Velocardiofacial Syndrome; Chromosome 22q11 Deletion Syndrome)
Definition
Definition
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 GlandsParathyroid glands are located on the thyroid gland in the neck.
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Causes
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
Risk Factors
DiGeorge may run in some families, but most have no family connection.
Symptoms
Symptoms
Physical features of DiGeorge are present at birth. These features do not worsen with age. They may include:
- Elongated face
- Hooded eyelid
- Small eyes
- Small jaw
- 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
- 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
Diagnosis
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.
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:
Treatment
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.
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
Prevention
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.
RESOURCES:
National Center for Biotechnology Information http://www.ncbi.nlm.nih.gov
CANADIAN RESOURCES:
Health Canada http://www.hc-sc.gc.ca
References:
http://www.ebscohost.com/dynamed
Updated March 28, 2010. Accessed August 7, 2013.
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 August 7, 2013.
DiGeorge syndrome. American Heart Association website. Available at:
http://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/DiGeorge-Syndrome_UCM_309017_Article.jsp
Updated April 26, 2011. Accessed August 7, 2013.
Last Updated: 5/11/2013