PSN Issue
WHAT IS VCFS?
In an effort to raise awareness on the various disorders, Parenting Special Needs magazine will be highlighting one disorder per issue.
In this issue we are highlighting Velo-Cardio-Facial Syndrome (VCFS).
The following information is used and reprinted with permission by the Velo-Cardio-Facial-Syndrome Education Foundation www.vcfsef.org
Velo-Cardio Facial Syndrome:
VCFS is a genetic disorder caused by a deletion of a small segment of the long arm of chromosome 22 (hence the name 22q11.2 deletion). It is one of the most common genetic disorders and occurs in approximately 1 in 2000 births. The name VCFS is taken from the features that were recognized as part of the syndrome in 1978.
Velo = velum or soft palate
Cardio = cardiac or heart
Facial = common facial characteristics
Syndrome = a collection of findings that occurs together
VCFS is known by many names, including DiGeorge syndrome or sequence, 22q11.2 deletion syndrome, Shprintzen syndrome, conotroncal anomalies face syndrome, and Sedlackova syndrome. Regardless of the stated diagnosis, if the 22q11.2 deletion is present, the diagnosis is VCFS A diagnosis of VCFS should not be made unless the deletion is confirmed by genetic testing (FISH). Inheritance of VCFS is autosomal dominant, so a parent who has the deletion has a 50% chance of passing it on to each offspring. However, research has shown that most cases of VCFS are caused by a new mutation, meaning that neither parent has the deletion. The region on chromosome 22 that is deleted is located at a “hot spot” in the human genome, a place where rearrangements are likely to occur. This is why most cases are new mutations.
Diagnosing VCFS:
A blood test called FISH (fluorescence in situ hybridization) is used to determine if the critical region of chromosome 22 is missing. If the test does not reveal the deletion but the diagnosis of VCFS is still strongly suspected, a lab error should be ruled out. The deletion must be present to diagnose the syndrome. When a diagnosis of VCFS is suspected, it is very important to have an evaluation by a geneticist because there are many other syndromes that can be mistaken for the 22q11.2 deletion. If FISH is negative and there was no lab error, then the individual has a different diagnosis.
Most Common Characteristics
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 recognized 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 disabilities. 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.
*Cardiac abnormalities (VCD, pulmonic stenosis, TOF, ASD, and others)
*Suppressed immune function
*Palate abnormalities (usually submucis cleft palate, but, most often not visible by looking in the mouth)
*Characteristic facial appearance (elongated face, prominent nasal bridge and nasal lip, almond shaped eyes, small ears)
*Long tapered fingers
*Feeding problems during infancy (nasal regurgitation of feeds or vomiting through the nose, failure to thrive)
*Chronic upper respiratory and middle ear infections
*Hypotonia
*Delay in achieving developmental milestones
*Delay in speech and language development
*Hypernasal speech
*Dental problems (poor enamel, cavities)
*Leg and foot pain
*Learning difficulties
*Psychological or psychiatric problems
*Kidney abnormalities
*Hernias (umbilical, inguinal, diastasis recti)
A complete list of the anomalies and frequency of occurrence with which they have been reported can be found on the website of the Velo-Cardio-Facial-Syndrome-Educational Foundation, Inc., at www.vcfsef.org .
Who should I consult if I suspect VCFS
You can ask your primary care provider to order the FISH test, but, the best way to proceed is to see a clinical geneticist. He or she can perform a complete evaluation, discuss the testing, and arrange for the FISH test to be conducted.
Treating VCFS
There is no “cure” for VCFS, but, there are ways to treat the various problems associated with the syndrome. It is important to realize that people with VCFS do not always respond to the same treatments as people with similar problems who do not have VCFS. Some treatments are even syndrome specific. Therefore, it is important to professionals caring for children and adults with VCFS to be knowledgeable about the syndrome. Palate, speech, immune system, and attention issues are several areas in which treatment may differ.
The above information is copyrighted and protected by VCFS Educational Foundation, Inc. For further information, please visit their website at www.vcfsef.org or call them at 1-866-VCFSEF5. Their email address is: info@VCFSEF.org .
Disclaimer: All information on this site is of a general nature and is furnished for knowledge and understanding only.