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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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
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 Questions Answered


4 question(s) from the public on this disease have been answered. Submit a new question.
  • My daughter was diagnosed with VCFS when she was about 3 yrs old. I've read lots of info on the subject and have joined some VCFS Facebook pages. Some of the parents have said that their child died from the syndrome. What is the likelihood that this will happen? And is there something I should be aware of to prevent death? Click here for answer

  • I frequently feel faint and have passed out. Is this related to having this syndrome? I am overweight and find it hard to lose. Also, if I tried for another child, would it have the syndrome too? My daughter has it. Click here for answer

  • I am confused with some articles on types of DiGeorge syndrome: What is complete vs partial DiGeorge syndrome? Is there any difference regarding heterozyous / homozygous deletion? Click here for answer

  • 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? Click here for answer

Other Names for this Disease
  • Autosomal dominant Opitz G/BBB syndrome
  • CATCH22
  • Cayler cardiofacial syndrome
  • Chromosome 22q11.2 deletion syndrome
  • Conotruncal anomaly face 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.