The VCFS and 22q11 Foundation supports families and persons affected by VCFS or Deletion 22q11.
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What is VCFS?

Velocardiofacial syndrome (VCFS/ 22q11) is a genetic syndrome (a syndrome means a pattern of features occurring together).

VCFS/deletion 22q11 is the most common microdeletion syndrome  The most common syndrome associated with cleft palates and the second most common syndrome associated with congenital heart disease.

The name velocardiofacial syndrome comes from the Latin words "velum" meaning palate, "cardio" meaning heart and "facies" having to do with the face. Not all of these identifying features are found in each child who is born with VCFS.

VCFS is a multiple anomaly syndrome caused by a submicroscopic deletion of genetic material from the long arm of chromosome 22. In fact, over 180 disorders might occur in VCFS and they cover nearly every organ system in the body with broad reaching effects on development and behavior, including speech, language, personality, mood, learning, attention, and temperament.

Some associated features include but are not limited to:

See specialist fact sheet for full list of associated abnormalities.

HOW IS THIS DELETION DETECTED?

A diagnosis is usually made by a clinical geneticist based on the clinical presentation of the person and the genetic testing for the deletion. This testing is known as FISH (Fluorescence In Situ Hybridisation).

Scientists developed “DNA markers” which originate from 22q. These markers can be chemically manipulated so that they fluoresce under microscopic illumination, and are called probes. If added to chromosomes from an individual’s cells they will stick to the part of chromosome 22q11 from which they originated.

Someone with VCFS and a deletion will only show one signal (on the undeleted chromosome 22), whereas as unaffected person will have two signals, one from each chromosome 22.

FISH testing is widely available for the clinical and prenatal diagnosis of deletion 22q11.

Is VCFS / Deletion 22q11 Rare?

VCFS is much more common than previously thought.

It is currently estimated that around 1 in 2000 births are affected making it the second most common genetic syndrome (Gothelf & Lombroso, 2001).

Due to the variable expression of VCFS the incidence is probably much higher than previously estimated and thus this rate is constantly being reviewed.


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