22q11.2 SA Deletion Syndrome Foundation
We are a non-profit company, incorporated by parents of children who have been diagnosed with 22q11.2 deletion syndrome (also known as Velo- Cardio-Facial syndrome, Shprintzen syndrome or Di-George syndrome).
Our mission is to educate ourselves and others about 22q11.2 deletion syndrome in order for affected children to be correctly diagnosed, treated and understood.
We obtain information from and liaise with the International 22q11.2 deletion syndrome community.
The 22q11.2 deletion syndrome is identified when genetic tests confirm that a small part of a patient’s chromosome 22 at the q11 region is missing.
The syndrome could lead to cardiac abnormalities, developmental delays, learning difficulties, palate abnormalities, speech and language developmental delays, hypernasal speech, feeding problems during infancy, chronic upper respiratory and middle ear infections – which are not all of the characteristics of the syndrome. Expression of the syndrome is highly variable from person to person and no individual has all of the anomalies.
Therefore, it is important for professionals caring for children and adults with 22q11.2 deletion syndrome to be knowledgeable about the syndrome.