How many people in the US have 22q11.2 Deletion Syndrome?

US prevalence estimate: Estimated frequency ~1 in 4,000 people; likely underdiagnosed because clinical features vary. No separate U.S.-specific count should be inferred (NIH MedlinePlus Genetics — 22q11.2 deletion syndrome).

22q11.2 Deletion Syndrome

22q11.2 Deletion Syndrome is indexed under Pediatric-Onset Chronic, Genetic/Chromosomal. Also known as DiGeorge syndrome, velocardiofacial syndrome, VCFS.

US prevalence: Estimated frequency ~1 in 4,000 people; likely underdiagnosed because clinical features vary. No separate U.S.-specific count should be inferred Source: NIH MedlinePlus Genetics — 22q11.2 deletion syndrome. This figure comes from a professional society, registry, or study rather than a federal source. Label: REPORTED.
ICD-10-CM codes: D82.1, Q93.81
Typical onset: Present at birth; features evolve with age
Course: lifelong
Body systems: cardiovascular, immunologic, endocrine, psychiatric
Sex differences: Equal
Racial and ethnic differences: Pan-ethnic

What this page does not establish

These figures describe populations, not individuals, and none of them is a diagnosis or a treatment recommendation. Prevalence estimates are approximate and reflect published ranges. Disparity figures are reported patterns, not causes.

Taxonomy last reviewed 2026-05-19. Each figure on the interactive page carries its own source and retrieval date, which can be later than this review.

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