22q11.2 deletion syndrome
Other Names for this Disease
- Autosomal dominant Opitz G/BBB syndrome
- Cayler cardiofacial syndrome
- Chromosome 22q11.2 deletion syndrome
- Conotruncal anomaly face syndrome
Your QuestionMy 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?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is 22q11.2 deletion syndrome?
- What causes 22q11.2 deletion syndrome?
- What are the signs and symptoms of 22q11.2 deletion syndrome?
- Are thyroid problems associated with 22q11.2 deletion syndrome?
- Why might calcium be given to a child with 22q11.2 deletion syndrome?
- Are seizures associated with 22q11.2 deletion syndrome?
- How might seizures be treated?
- Can 22q11.2 deletion syndrome affect the central nervous system?
- Is 22q11.2 deletion syndrome rare?
- Is 22q11.2 deletion syndrome inherited?
- Since my son is having seizures now, could it mean that he has a different syndrome such as, hypoparathyroidism-retardation-dysmorphism syndrome?
- What is hypoparathyroidism-retardation-dysmorphism syndrome?
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.
- Heart defects (74% of individuals)
- Palatal abnormalities (69% of individuals)
- Characteristic facial features (e.g., elongated face, almond-shaped eyes, wide nose, and small ears)
- Learning difficulties (70-90% of individuals)
- Immune system problems (75% of individuals)
- Low levels of calcium (50% of individuals)
- Significant feeding problems (30% of individuals)
- Kidney anomalies (37% of individuals)
- Hearing loss
- Laryngotracheoesophageal anomalies
- Growth hormone deficiency
- Autoimmune disorders (e.g., thrombocytopenia, juvenile rheumatoid arthritis, overactive thyroid, vitiligo, neutropenia, and hemolytic anemia)
- Skeletal abnormalities (e.g., extra fingers, toes, or ribs, wedge-shaped spinal bones, craniosynostosis)
- Psychiatric illness
- Eye abnormalities (e.g., ptosis, coloboma, cataract, and strabismus)
- Central nervous system abnormalities
- Gastrointestinal anomalies
- Preauricular tags
- Abnormal growths (e.g., hepatoblastoma, renal cell carcinoma, Wilm's tumor, and neuroblastoma)
We recommend you discuss concerns regarding your child's treatment with his physician.
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):
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.
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.
* 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.
* 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.
- 22q11.2 deletion sydrnome. Genetics Home Reference. 2007; http://ghr.nlm.nih.gov/condition=22q112deletionsyndrome . Accessed 6/25/2008.
- Velocardiofacial syndrome. National Institute on Deafness and other Communication Disorders (NIDCD). 2004; http://www.nidcd.nih.gov/health/voice/velocario.asp. Accessed 6/25/2008.
- 22q11.2 deletion syndrome. Genetics Home Reference. July, 2013; http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome. Accessed 1/29/2014.
- McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome. GeneReviews. 2005; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gr_22q11deletion. Accessed 6/25/2008.
- Graves disease. MedlinePlus. 2006; http://www.nlm.nih.gov/medlineplus/ency/article/000358.htm. Accessed 6/25/2008.
- Hypoparathyroidism. MedlinePlus. 2006; http://www.nlm.nih.gov/medlineplus/ency/article/000385.htm. Accessed 6/25/2008.
- Sanjad-Sakati syndrome. Orphanet. 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2323. Accessed 6/25/2008.