The name velocardiofacial comes from the Latin words “velum,” meaning palate, “cardia,” meaning heart, and “facies,” having to do with the face.

Velocardiofacial syndrome (VCFS) is a genetic disease caused by the deletion of a small portion of the 22nd chromosome at a specific region known as band q11.2; thus it is also known as 22q11 deletion syndrome. Other names include Shprintzen syndrome, craniofacial syndrome, DiGeorge syndrome, and conotruncal anomaly face syndrome.

Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. It is estimated that one in 2,000 to 5,000 children per year are born with this condition, and more than 130,000 individuals in the United States have this syndrome.


The most common symptoms associated with VCFS are cleft palate and distinct facial abnormalities, including:

  • A long face with prominent upper jaw
  • An underdeveloped lower jaw
  • Low set ears
  • A prominent nose with narrow nasal passages
  • A thin upper lip with a down-slanted mouth

Additionally, multiple abnormalities of the heart are common. These include a series of defects that can affect the valves, chambers, and blood vessels of the heart, compromising its ability to function properly.

Developmental and sensory issues, such as learning disabilities, hearing loss, and speech problems, may be signs that your child has VCFS.

Because this is not an exhaustive list of symptoms and the presence or absence of these abnormalities alone does not form an accurate diagnosis, we recommend a team of specialists, such as the team at the North Carolina Cleft and Craniofacial Center team, who can provide you and your child with a comprehensive examination and diagnosis.


For some children with VCFS, the condition is detected during a physical exam at birth, but in other cases, it is not noticed until later in life. Microarray testing can also detect the chromosome deletion and can confirm diagnosis of VCFS.


Treatment of VCFS requires a multidisciplinary approach so that their medical problems can be assessed holistically. Because VCFS includes heart defects and potential obstruction to the airway, treatment should be done soon after birth. Depending on your child’s specific needs, this may include surgical repair of heart defects and reconstruction of the palate, lower jaw, and ears.

Neurological development and speech therapy will be recommended and offered by our specialists at the North Carolina Cleft and Craniofacial Center if necessary.