Supporting people with 22q11.2 Deletion Syndrome & other 22q related conditions.
Awareness, Education, Community & Support
What is 22q11.2 Deletion Syndrome?
22q11.2 Deletion Syndrome is a genetic syndrome. It is the result of a submicroscopic deletion on the long arm of Chromosome 22 in the “q11” region - deletion 22q11.
22q11.2 Deletion Syndrome is also known as VCFS, DiGeorge (DGS), Shprintzen Syndrome, CATCH 22, Conotruncal anomaly face syndrome and Cayler cardiofacial syndrome.
22q11.2 DS affects approx. 1 in 1000 - 2000 persons
22q11.2 DS is the most common genetic syndrome associated with cleft palates and approx. 65% of patients will have a cleft or palate abnormality
Approx. 75% of patients with 22q11.2 DS will have a congenital heart defect. Click here for more information
Research suggests that 90% of people with 22q11.2 DS will have a learning differences or impairments (for more information visit our education page)
Most people with 22q11.2DS will have some form of anxiety, stress or depression, however this can be managed. Research suggests that 25% of patients may develop a serious mental illness.
22q11.2 DS has more than 180 anomalies associated with it. A list of multisystem features can be found here
For information on the duplication please refer to the International 22q11 Foundation