The 22q11.2 Society
www.22qsociety.org


Promoting research, diagnosis, prognosis, and management of 22q11.2DS & related disorders

Nomenclature

Old names of 22q11.2 deletion syndrome

  • Same Name Campaign
    Same Name Campaign
    autosomal dominant Opitz G/BBB syndrome
  • CATCH22
  • Cayler cardiofacial syndrome
  • conotruncal anomaly face syndrome (CTAF)
  • deletion 22q11.2 syndrome
  • DiGeorge syndrome
  • Sedlackova syndrome
  • Shprintzen syndrome
  • VCFS
  • velo-cardio-facial syndrome
  • velocardiofacial syndrome
Source: NIH Genetics Home Reference

For more information on the history on the study of this syndrome, please visit:

The History of 22q11.2 Deletion Right Arrow

Current name

In the early 1990s, researchers found that deletions in the 22q11.2 chromosomal region are responsible for the collection of syndromes listed above. Now that the unifying cause is found, researchers are encouraging everyone (individuals with the syndrome, their family members, medical professionals) to use the name

22q11.2 Deletion Syndrome

instead of the multiple descriptive but outdated names. This is the basis for the "Same Name Campaign".

Source: 22qsociety.org/knowledge/nomenclature

The 22q11.2 Society Registered Charity No. 1165896