Names and terminology

A short guide to the names used for 22q11.2 deletion syndrome, and why the terminology can vary.

Why do different names appear?

Over time, clinicians and researchers have used several terms for conditions associated with deletions in the 22q11.2 region. Names such as DiGeorge syndrome and velocardiofacial syndrome (VCFS) may appear in older research, clinical records, and community materials. They developed from different ways of describing features or patterns associated with the deletion.

These terms are related, but they are not always used in exactly the same way. A person’s medical record may use a specific diagnosis or historical term. When discussing an individual’s care, use the wording they and their clinical team prefer.

Writing about 22q

• Use “22q11.2 deletion syndrome” when referring generally to the genetic condition.
• Use a person’s preferred language and identity-first or person-first wording as they request.
• When quoting older material, keep its original terminology but explain that it reflects the language used at the time.
• Avoid assuming that a label tells you what someone can do, needs, or wants.

Further information

For clinical terminology and current genetic information, see the NHS Genomics Education Knowledge Hub and speak with a qualified health professional for individual questions.

Reviewed October 2026.