ABOUT 22q11.2 PDF Print E-mail

VCFS/22Q11.2DS/DiGeorge Syndrome

VCFS is short for Velo-Cardio-Facial Syndrome.  VCFS is a medical condition which is caused by the deletion of a small part of one of a person's two chromosomes 22.  The deletion occurs on the longer arm (or q arm) of the two arms of this chromosome.  Another name for VCFS is therefore 22q11.2 Deletion Syndrome (or 22q11DS).  VCFS is sometimes also referred to as DiGeorge Syndrome, particularly when children have heart problems.

Because several different researchers in various areas of expertise have described it, the syndrome carries different names. Many physicians and researchers today use the term 22q11.2 deletion syndrome because it describes the underlying chromosome problem, or velo-cardio-facial syndrome (VCFS) because it describes the main body systems involved.


Many individuals with VCFS experience specific learning difficulties.  They may also experience behavioural problems and often find it more difficult to make friends.  Sometimes their thinking and speech may be difficult to follow or may seem unusual to others.  It is not clear at the moment to what extent individuals with VCFS/22q11 are at risk for these problems.

Characteristics of VCFS/22q11/DiGeorge Syndrome

More than 180 anomalies have been reported in people with VCFS, but expression of the syndrome is highly variable from person to person and no individual has all of the anomalies.  Also, some anomalies are readily apparent and may be recognised at birth while others are subtle and may go unnoticed until much later.  Still others are developmental and do not even exist until later on, such as learning difficulties.  This explains why a diagnosis of VCFS is sometimes made during the first few days of life and other times, not until much later.  Also, there is great variability in the severity with which characteristics may appear and in the degree to which they cause difficulty.  Each of these characteristics occurs in isolation and in other syndromes.  It is when two or more of them occur together that a possible diagnosis of VCFS should be considered.