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Diseases

Genetic and Rare Diseases Information Center (GARD)

22q11.2 deletion syndrome


Other Names for this Disease
  • Chromosome 22q11.2 deletion syndrome
  • Velocardiofacial syndrome
  • VCFS
  • DiGeorge syndrome
  • Shprintzen syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My son has 22q11.2 deletion syndrome (velocardiofacial syndrome) and was recently diagnosed with thyroid problems. He was treated with calcium. Why? Since he started his calcium he has been having seizures that seem to be triggered by intense emotion. Why? Does his condition affect his central nervous system? How can we treat his seizures? Now that he has seizures could he be classified as having a condition other than 22q11.2 syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What are the signs and symptoms of 22q11.2 deletion syndrome?

Signs and symptoms of 22q11.2 deletion syndrome vary greatly from person to person, even among affected people in the same family. Symptoms may include:[1]
Last updated: 1/29/2014

Are thyroid problems associated with 22q11.2 deletion syndrome?

Yes. Some people with 22q11.2 deletion syndrome develop autoimmune diseases that can affect the thyroid. This includes Grave's disease, a disease that causes the thyroid gland to produce too much hormone (hyperthyroidism) and hypothyroidism, a condition in which the thyroid gland does not produce enough hormone.[1]
Last updated: 5/18/2016

Why might calcium be given to a child with 22q11.2 deletion syndrome?

Many people with 22q11.2 deletion syndrome develop hypoparathyroidism. Hypoparathyroidism is a condition in which little parathyroid hormone (PTH) is produced.  This condition causes low levels of calcium and high levels of phosphorus in the blood. Common symptoms may include tingling, muscle cramps, pain, dry hair, brittle nails, dry, scaly skin, cataracts, weakened tooth enamel in children, muscle spasms called tetany (can lead to spasms of the larynx, causing breathing difficulties), and seizures. The goal of treatment is to restore the calcium and mineral balance in the body.[2][1]

We recommend you discuss concerns regarding your child's treatment with his physician.
Last updated: 5/18/2016

Are seizures associated with 22q11.2 deletion syndrome?

Yes. Some people with 22q11.2 deletion syndrome have seizures. The seizures may be evidence of an underlying central nervous system abnormality or can result due to low levels of the parathyroid hormone.[1]
Last updated: 5/18/2016

How might seizures be treated?

There are many treatment options available for children and adults with seizures. It can be challenging for a family to find the medication or procedure that works best for their child. We suggest that you speak with your child's health care provider about working with a physician who specializes in treating epilepsy. The Epilepsy Foundation provides information that can assist you in finding an epilepsy specialist in your area. To access this information, click here

You can find more information on seizures and seizure disorders including information on treatment at the following links from MedlinePlus, the National Library of Medicine Web site designed to help you research your health questions.

Additional information on seizures can also be found by visiting the following Web page developed by the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health (NIH).

Last updated: 5/18/2016

Can 22q11.2 deletion syndrome affect the central nervous system?

Yes. 22q11.2 deletion syndrome can affect the central nervous system. Examples of central nervous system abnormalities, including brain abnormalities (e.g., cerebellar atrophy, polymicrogyria, enlarged sylvian fissures), neural tube defectstethered cord, and seizures.[1]
Last updated: 5/18/2016

Since my son is having seizures now, could it mean that he has a different syndrome?

Some individuals with 22q11.2 deletion syndrome do develop seizures. However, if you have questions regarding your son's diagnosis, we encourage you to speak with his healthcare provider. You may find it helpful to meet with a genetics professional, if you have not already done so.
Last updated: 5/18/2016

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 5/18/2016

References
Other Names for this Disease
  • Chromosome 22q11.2 deletion syndrome
  • Velocardiofacial syndrome
  • VCFS
  • DiGeorge syndrome
  • Shprintzen syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.