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Because of the way our understanding of the 22q11.2 deletion evolved, several different names continue to be used for what we now know to be the same condition. These older terms include:

  • DiGeorge syndrome (DGS)
  • Velocardiofacial syndrome (VCFS)
  • Conotruncal anomaly face syndrome (CTAF)
  • Opitz G/BBB syndrome
  • Cayler cardiofacial syndrome

Genetically speaking, there is no detectable difference in the microdeletions found in people with VCFS versus those with DGS or the other related syndromes. Individuals with these diagnoses all have the same underlying condition: the 22q11.2 deletion syndrome. Rather than further dividing our small 22q community, the Foundation aims to bring us all together by educating the public and professionals about the deletion’s many names.

Learn about the Foundation’s Talk About 22q Campaign.

Further complicating the 22q story, a known deletion involving different genes further down the chromosome is associated with an entirely unrelated and far less common disorder called 22q13 deletion or Phelan-McDermid syndrome. If you are looking for information about 22q13, please visit the Phelan-McDermid Syndrome Foundation.

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At the International 22q11.2 Foundation we help families that need important resources and information to meet the needs of loved ones with 22q.

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