Velocardiofacial syndrome (or VCFS) is known by many names, including Shprintzen Syndrome, Craniofacial Syndrome, or Conotruncal Anomaly Face Syndrome. The name velocardiofacial syndrome comes from the Latin words “velum” meaning palate, “cardia” meaning heart, and “facies” having to do with the face.
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. It is estimated that 1 in 2,000 to 5,000 children per year are born with velocardiofacial syndrome, and over 130,000 individuals in North America have this syndrome.
While the exact cause of velocardiofacial syndrome remains unknown, investigators have identified an associated chromosomal defect in people with velocardiofacial syndrome. Most children identified as having velocardiofacial syndrome are missing a small piece of chromosome 22. This so-called “deletion” is located at a region of the chromosome called 22q11.2. Which gene or genes located on this part of chromosome 22 are missing and responsible for causing the features of velocardiofacial syndrome remain unknown. There is a genetic test for the diagnosis of this condition called a “FISH analysis” that can be performed in many medical centers.
In studying some families with velocardiofacial syndrome, scientists have determined that it is an autosomal dominant disorder. This means that only one of the parents needs to have the chromosomal change in order to pass it along to a child. A parent with velocardiofacial syndrome has a 50/50 chance of having a child with it. However, it is estimated that velocardiofacial syndrome is inherited this way in only 10 to 15 percent of cases. Most of the time neither of the parents has the syndrome nor carries the defective gene and the cause of the deletion is called “sporadic”.
Deletions in this area of chromosome 22 have also been associated with other syndromes, including DiGeorge syndrome and one type of OPITZ G/BBB syndrome.
VCFS includes many common features:
- Cleft palate
- Heart defects
- A characteristic facial appearance
Other common findings include minor learning problems and speech and feeding problems.
Since the initial description of this syndrome, many other parts of the body have been reported to be involved. Many of the affected body systems are:
- Immune system – helps to fight off infections
- Endocrine system – the series of glands that secrete important hormones for normal growth and development
- Neurological system – brain control centers for learning, speech and hearing, and moods
Research shows that children with velocardiofacial syndrome are born with these features and that they do not progress over time. It is important to realize none of these occurs 100 percent of the time. Knowing which body systems are affected will help your doctors provide you and your child with the most complete therapeutic interventions.
Problems associated with velocardiofacial syndrome include:
- Long face with prominent upper jaw
- Flattening of the cheeks
- Underdeveloped lower jaw
- Bluish color below the eyes
- Prominent nose with narrow nasal passages
- Thin upper lip with a down-slanted mouth
- Learning disabilities in one or more areas
- Hearing loss
- Speech problems
- Extremes of behaviors/mood swings
- Multiple abnormalities of the heart including:
Depending on the presence and severity of various features, any child with VCFS might need one or more of the following surgeries:
- Repair of heart defects
- Repair of cleft palate
- Repair/reconstruction of the lower jaw
- Reconstructive surgery of the ears