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 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?
- Can 22q11.2 deletion syndrome be 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?
Chromosomes are the structures that hold our DNA. Our DNA contains the instructions, called genes, that tells our bodies how to develop and function. Researchers are working to identify all of the genes that contribute to the symptoms of 22q11.2 deletion syndrome. They have determined that the loss of a particular gene called, TBX1, is probably responsible for many of the syndrome's symptoms. Additional genes in the deleted region likely contribute to the varied features of this 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):
Most cases of 22q11.2 deletion syndrome are not inherited, however. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the condition to their children.
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. Genetic 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.
- 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.