22q Deletion Velocardiofacial syndrome is a genetic condition caused by a very tiny missing piece on chromosome 22. This condition is highly variable in its severity and in the number of body systems that are affected. There is a difference in severity even between affected individuals in the same family. The most commonly affected areas are the heart, the palate (roof of the mouth) and speech, learning and behavior.
About one in every 4 - 6,000 babies is born with 22q deletion syndrome. Children with 22q deletion may have distinct facial features.
Other names for 22q deletion syndrome include:
- 22q11.2 deletion syndrome
- DiGeorge syndrome
- Velocardiofacial syndrome
- Shprintzen syndrome
- Conotruncal anomaly face syndrome
- Caylor cardiofacial syndrome
- Autosomal Dominant Opitz G/BBB syndrome.
Click on the image below for a printable poster or handout to promote GEMSS information on 22q deletion syndrome.
This information was last updated in May 2022.