22q: An Overview





Other Names Commonly Used for 22q11.2DS

Because the various signs and symptoms of 22Q11.2DS are so varied, different groupings of the features were initially and traditionally described as separate conditions.

For example, other names that have been used (and are are still sometimes used) for 22Q11.2DS include:

  • DiGeorge syndrome
  • Velocardiofacial syndrome (VCFS) (also called Shprintzen syndrome)
  • Conotruncal anomaly face syndrome
  • The autosomal dominant form of Opitz G/BBB syndrome
  • Cayler cardiofacial syndrome
  • Kouseff syndrome
  • Takao syndrome
  • CATCH 22 – based on Joseph Heller’s novel CATCH22 (Cardiac, Abnormal facies, Thymic aplasia, Cleft palate, Hypocalcemia / Hypoparathyroidism)

Why so many names?

These are all older names given to a collection of findings by different sub-specialists before anyone really knew about the true underlying cause of the various findings – that they are all related to the chromosome 22Q11.2 deletion.

For example, Angelo DiGeorge, MD, an endocrinologist, focused on problems with calcium; Robert Shprintzen, PhD, a speech pathologist, concentrated on palatal differences; and Dr. Kinouchi and others in Japan looked at heart defects.

Once the genetic basis for the disorder was identified, the medical community agreed that they were all part of a single syndrome with many possible signs and symptoms.

So as to avoid generating confusion, the condition is usually referred to as 22Q11.2DS, a description that is based on its underlying genetic cause.