Each year, about one in every 4,000 people is born with 22q11.2 deletion syndrome—a genetic disorder caused by missing information on the 22nd chromosome. Nearly as common as Down syndrome, this condition is variable in nature, meaning that, even among members of the same family, the type and severity of resulting medical problems can be very different.
According to the Velo-Cardio-Facial Syndrome Educational Foundation, more than 180 different clinical features have been described among individuals with 22q11.2 deletions.
22q11.2 deletion syndrome is the “cytogenic name” for several different chromosomal disorders, including:
- DiGeorge syndrome (DGS)
- Velocardiofacial syndrome (VCFS)
- Shprintzen syndrome
- Conotruncal anomaly face syndrome (CTAF)
- Caylor Cardiofacial syndrome
- Autosomal dominant opitz G/BBB syndrome
Why So Many Names?
In their paper, The History of the 22q11.2 Deletion, Elaine H. Zackai, MD, and Donna M. McDonald-McGinn, MS, CGC, of the Children’s Hospital of Philadelphia’s 22q and You Center, explain that “the diagnostic name which is given to a particular patient’s set of findings is generally determined by the subspecialist to whom the patient presents. For example, patients diagnosed with CTAF presented to cardiology because of their heart defect. The same is true for many patients with DiGeorge syndrome who often had problems with calcium and their thymus gland in addition to their heart problems. Patients diagnosed with VCFS were usually older, presenting to the cleft palate clinic for follow-up due to a cleft palette or VPI.”
Want to Learn More?
To learn more about 22q11.2 deletion syndrome, visit the International 22q11.2 Deletion Syndrome Foundation at http://www.22q.org, or the Velo-Cardio-Facial Syndrome Educational Foundation at http://www.vcfsef.org.