DiGeorge+Syndrome

DiGeorge Syndrome

Description: DiGeorge syndrome is a very rare disease that is present at birth (or congential). The symptoms of DiGeorge syndrome vary much between certain individuals but usually include infections that keep appearing, defects of the heart, and distinctive facial features. The variation of symptoms in DiGeorge syndrome is associated with the loss of genetic material in the deletion of the chromosome.

Chromosome location: DiGeorge syndrome is caused by a deletion from chromosome 22, which is produced by an error during recombination in meiosis (the process that makes germ cells and guarantee genetic variety in the child). This certain deletion means that some genes from this area are not available in patients suffering from DiGeorge syndrome.

Treatment: DiGeorge syndrome is not a curable disease. However, it can be treated. The first treatment is usually to treat the hypoparathyroidism. An IV of calcium gluconate is given to help stop seizures caused by low calcium levels, followed by a low phosphorus diet, calcium supplements, and vitamin D. Also, fixing of congential heart defects are needed if it is present.

Life Expectancy: Life expectancy also varies. It depends on the severity of the disease. Some babies with DiGeorge syndrome are stillborn if it is a serious case. Some people with a mild case live longer than usual.

Support Organizations: The biggest and most well-known advocacy group for DiGeorge syndrome patients is the Velo-Cardio-Facial Syndrome Educational Foundation, Inc. or the VCFS. There are also some support groups on the Internet but they are not as well known as the VCFS.