What is VCFS?
Some children have many of the characteristics of the Syndrome whilst others only have a few. The combination of symptoms (listed in Most Common Symptoms) varies considerably from child to child. The effects can be anywhere on the continuum from mild to severe. The three main areas of VCFS are:
- Palate (Velo)
- Heart (Cardio)
- Facial Features (Facial)
VCFS was first described as a Syndrome with the key components by Dr Robert Shprintzen in 1978.
What causes VCFS?
There is no evidence VCFS is caused by any known environmental factor, however it can be hereditary. It is the result of a deletion of a small segment of the long arm of chromosome 22.
VCFS is also known as:
- 22q11.2 Syndrome
- Di George Syndrome
- CATCH 22
- Shprintzen Syndrome
- Cayler Cardiofacial Syndrome
For the purposes of this website, the Syndrome will always be referred to as VCFS.
How do you test for VCFS?
The only way to test for VCFS is through a blood test (called a FISH test, which simply put, uses special DNA markers under probes).
If your child is found to have VCFS both parents can be tested to check if it is hereditary. In 90% of cases neither parent has the 22q11 deletion.
Some patients showing symptoms of VCFS have been tested and show normal results. It is possible, where more in-depth tests are able to be done using research probes, to have results which show variations of this deletion.
Is it curable?
VCFS is not curable. An individual with VCFS has a 50% chance of passing it on to offspring with each pregnancy. If the Syndrome is passed on, the child will not necessarily be affected the same as the individual passing it on. Therefore a severely affected individual can have a child with only mild symptoms and vice versa.
Tests are available during pregnancy to screen for VCFS.
What does the future hold?
With early intervention and special education, young children should benefit substantially and will be able to reach their full potential.
Want to know more?
More detailed information can also be found by following some of the links in our Links and Resources section or by reading one/many of the various books published on VCFS.