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22q11.2 deletion syndrome


Other Names for this Disease
  • Autosomal dominant Opitz G/BBB syndrome
  • CATCH22
  • Cayler cardiofacial syndrome
  • Chromosome 22q11.2 deletion syndrome
  • Conotruncal anomaly face syndrome
More Names
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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, such as hypoparathyroidism retardation dysmorpha syndrome? What is this syndrome?

Our Answer

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

What is 22q11.2 deletion syndrome?

22q11.2 deletion syndrome is a spectrum disorder that includes conditions formerly called DiGeorge syndrome; velocardiofacial syndrome; conotruncal anomaly face syndrome; cases of Opitz G/BBB syndrome; and Cayler cardiofacial syndrome.[1] The features and severity can vary greatly among affected people. Signs and symptoms may include cleft palate, heart defects, recurrent infections, unique facial characteristics, feeding problems, immune system disorders, kidney abnormalities, hypoparathyroidism, thrombocytopenia, scoliosis, hearing loss, developmental delay, and learning disabilities.[2] People with this condition are also more likely to develop certain autoimmune disorders and personality disorders.[402] In most cases, the syndrome occurs for the first time in the affected person; about 10% of cases are inherited from a parent.[3] It is inherited in an autosomal dominant manner.
Last updated: 3/11/2014

What causes 22q11.2 deletion syndrome?

22q11.2 deletion syndrome is caused by a missing piece (deletion) of part of chromosome 22 in each cell. The deletion occurs near the middle of the chromosome at a location designated q11.2.

Most people with 22q11.2 deletion syndrome are missing a piece of the chromosome that contains about 30 to 40 genes, many of which have not been well characterized. Some affected people have smaller deletions. Researchers are working to learn more about all of the genes that contribute to the features of 22q11.2 deletion syndrome. The deletion of a particular gene, TBX1, is probably responsible for many of the syndrome's characteristic signs (such as heart defects, a cleft palate, distinctive facial features, hearing loss, and low calcium levels). Loss of this gene may also contribute to behavioral problems. The loss of another gene, COMT, may also cause increased risk of behavioral problems and mental illness in affected people. The other genes that are deleted likely contribute to the various features of 22q11.2 deletion syndrome.[3]
Last updated: 1/29/2014

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:[4]
Last updated: 1/29/2014

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

Yes. Some people with 22q11.2 deletion syndrome develop Grave's disease, an autoimmune disease that causes the thyroid gland to produce too much hormone. Symptoms of Grave's disease may include anxiety, restlessness, insomnia, weight loss, and eye protrusion. Grave's disease may be treated with antithyroid medications, radioactive iodine, or surgery.  Beta-blockers such as propranolol may be used to treat symptoms of rapid heart rate, sweating, and anxiety until the over active thyroid is controlled.[5]
Last updated: 6/25/2008

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, paindry 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 convulsions (seizures). The goal of treatment is to restore the calcium and mineral balance in the body.[6]

We recommend you discuss concerns regarding your child's treatment with his physician.
Last updated: 7/2/2008

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.[4]
Last updated: 7/2/2008

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 a epilepsy specialist in your area at the following link.
http://www.epilepsyfoundation.org/drsearch.cfm

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.
http://www.nlm.nih.gov/medlineplus/ency/article/003200.htm
http://www.nlm.nih.gov/medlineplus/ency/article/000694.htm
http://www.nlm.nih.gov/medlineplus/seizures.html

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):
http://www.ninds.nih.gov/disorders/epilepsy/detail_epilepsy.htm

Last updated: 7/2/2008

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.[4]
Last updated: 7/2/2008

Is 22q11.2 deletion syndrome rare?

Yes. 22q11.2 deletion syndrome affects an estimated 1 in 4,000 people. The condition may actually be more common than this estimate, however, because some people with a 22q11.2 deletion have few signs and symptoms and are not diagnosed with the disorder.[1]
Last updated: 7/2/2008

Is 22q11.2 deletion syndrome inherited?

Most cases of 22q11.2 deletion syndrome are not inherited from a parent and are caused by a random error during the formation of egg or sperm cells, or during early fetal development. In about 10% of cases, the deletion is inherited from a parent with the deletion.[3]

All people with the deletion, whether they inherited it or not, can pass the deletion to their children. The inheritance pattern is autosomal dominant because having a deletion in only one copy of chromosome 22 in each cell is enough to cause signs and symptoms. Each child of a person with the deletion has a 50% (1 in 2) chance to inherit the deletion.
Last updated: 1/30/2014

Since my son is having seizures now, could it mean that he has a different syndrome such as, hypoparathyroidism-retardation-dysmorphism 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. To find a genetics clinic near you, we recommend contacting your primary doctor for a referral.

The following online resources can also help you find a genetics professional in your community:

  * GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on "Clinic Directory" to find a genetic service close to you. 
http://www.geneclinics.org/

  * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
http://www.nsgc.org/resourcelink.cfm

  * Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
http://www.kumc.edu/gec/prof/genecntr.html

Last updated: 7/2/2008

What is hypoparathyroidism-retardation-dysmorphism syndrome?

Hypoparathyroidism-retardation-dysmorphism syndrome is characterized by hypoparathyroidism, growth retardation, intellectual deficit, seizures, microcephaly (small head size), facial, eye, and teeth abnormalities, and short hands and feet. The syndrome is inherited in an autosomal recessive manner. It is caused by mutations in the tubulin-specific chaperone E (TBCE) gene.[7]
Last updated: 7/2/2008

References