DiGeorge Syndrome

The things you need to know about this disease.

DiGeorge Syndrome

DiGeorge Syndrome, AKA 22q11.2 Deletion Syndrome, is a rare disease that is most always found in infants. It is caused by abnormal cell migration and certain cells that develop at the wrong time. It's not fatal, but causes major facial and heart defects and learning disabilities. It can usually be detected around the 18th week of pregnancy. It is passed dominantly, so if only one of you has the dominant trait, one of your children may get it. There is no cure, but treatments such as eating calcium acetate every day or having palatoplasty, which is used to correct cleft palates, would be needed.

Other Facts

DGS patients will need a team of nurses to care for them at home and a main physician to monitor growth and development. This will be needed until the child is about 11 or 12, and it is best not to enroll them into public school until they are 18. The child can have children in the future, but they would more than likely be affected. Most of the symptoms deal with facial defects, but the child may have blue-ish skin and difficulty feeding.