22q11 deletion syndrome is a genetic disorder caused by the deletion of a small piece of chromosome. This syndrome affects 1 out of every 4,000 infants. This number is probably even higher because milder symptoms can go undiagnosed.
The features of this syndrome vary widely from person to person; even among affected members of the same family. The signs and symptoms of this disorder include: heart defects, cleft palate, weak immune system, ear infections and hearing loss, kidney abnormalities, feeding difficulties, and low blood calcium which can result in seizures. Developmental delays and learning disabilities are also common. In older children and adults with this syndrome, depression, anxiety, and other mental problems often develop.
Because the signs and symptoms of 22q11 deletion syndrome are so varied, other names such as: DiGeore Syndrome, VCFS (velo cardio facial syndrome) and Shprintzen Syndrome are used to describe different aspects of the syndrome. They all fall under the umbrella of the 22q11 deletion. Please contact us for more information.