| Home | Article Database | Resources | Tools & Just for Fun | Search HY |
What is velocardiofacial syndrome?
Velocardiofacial syndrome (VCFS) is a disorder that has been associated
with over thirty different features. (A disease or disorder that has more than
one identifying feature or symptom is a syndrome.) The name velocardiofacial
syndrome comes from the Latin words "velum" meaning palate, "cardia"
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. The most
common features are cleft palate (opening in the roof of the mouth), heart
defects, characteristic facial appearance, minor learning problems and speech
and feeding problems.
Although VCFS is the most common syndrome associated with a cleft palate,
it was not recognized until 1978, at which time Dr. Robert J. Shprintzen of the
Center for Craniofacial Disorders at the Montefiore Medical Center in Bronx,
New York, described 12 children with the disorder. Most or all of these first
12 children were born with a cleft palate, heart defects and similar faces.
VCFS may also be known as Shprintzen syndrome, DiGeorge syndrome,
Craniofacial syndrome or Conotruncal Anomaly Unusual Face Syndrome.
What causes velocardiofacial syndrome?
The cause of VCFS is unknown. What is known is that it is a genetic disorder.
This means that there is a problem with one or more of the genes which are
found in every cell of the body that contain the instructions that tell cells what
to do. Although the gene or genes that cause VCFS have not been identified,
most of the children who have been diagnosed with this syndrome are missing
a small part of chromosome 22. Chromosomes are threadlike structures found
in every cell of the body. Each chromosome contains hundreds of genes. A
human cell normally contains 46 chromosomes (23 from each parent). The
location or address of the missing segment in individuals with VCFS is 22q11.
As a result of this deletion, some of the genes are absent from this
Scientists and physicians know that VCFS is an autosomal dominant disorder.
This means that only one parent needs to have the gene for VCFS in order to
pass it along to their children. When one of the parents has VCFS the chance
of their children having the syndrome is 1 in 2 or about 50/50 for each birth.
Research has revealed, however, that VCFS is inherited in only about 10 to
15 percent of the cases. In most instances, neither of the parents has the
syndrome or carries the defective gene and the cause of the deletion is
What are the features of velocardiofacial syndrome?
Despite the involvement of a very specific portion of chromosome 22, there is
great variation in the features of this syndrome. At least 30 different problems
have been associated with the 22q11 deletion. None of these problems occur
in all cases. The list includes: cleft palate, usually of the soft palate (the roof of
the mouth nearest the throat which is behind the bony palate); heart problems;
similar faces (elongated face, almond-shaped eyes, wide nose, small ears);
learning difficulties; eye problems; feeding problems that include food coming
through the nose (nasal regurgitation) because of the cleft palate; middle-ear
infections (otitis media); hypoparathyroidism (low levels of the parathyroid
hormone that can result in seizures); immune system problems which make it
difficult for the body to fight infections; weak muscles; short height; curvature
of the spine (scoliosis); and tapered fingers. Children are born with these
features which do not worsen with age.
How common is velocardiofacial syndrome?
Cleft palate is the fourth most common birth defect affecting approximately
one of every 700 live births. VCFS occurs in approximately 5 to 8 percent of
children born with a cleft palate. It is estimated that over 130,000 individuals
in the United States have this syndrome.
National Institute on Deafness and Other Communication
National Institutes of Health
31 Center Drive, MSC 2320
Bethesda, MD USA 20892-2320
Contact information updated February 2002