22q11.2 deletion syndrome
- Chromosome 22q11.2 deletion syndrome
- Velocardiofacial syndrome
- DiGeorge syndrome
- Shprintzen 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?
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 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?
- Since my son is having seizures now, could it mean that he has a different syndrome?
- How can I find a genetics professional in my area?
- 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).
The following online resources can help you find a genetics professional in your community:
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- McDonald-McGinn DM, Emanuel BS & Zackai EH. 22q11.2 deletion syndrome. GeneReviews. February 28, 2013; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gr_22q11deletion.
- Hypoparathyroidism. MedlinePlus. July 1, 2014; http://www.nlm.nih.gov/medlineplus/ency/article/000385.htm.