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Heart Conditions and Diagnoses

Velocardiofacial Syndrome (VCFS)

Shprintzen Syndrome, Craniofacial Syndrome or Conotruncal Anomaly Face Syndrome

Explanation | Causes | How Common? | Kinds of Problems | Treatment | Resources

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What is velocardiofacial syndrome?

Velocardiofacial Syndrome might be referred to by other names including Shprintzen Syndrome, Craniofacial Syndrome, or Conotruncal Anomaly Face Syndrome.

The name Shprintzen Syndrome comes from physician Dr. Robert Shprintzen of the Center for Craniofacial Disorders, who, in 1978, described a series of 12 children with a cleft palate (incomplete closure of the roof of the mouth), heart defects (abnormalities of the heart from the time of birth) and similar facial characteristics.

The name Velocardiofacial Syndrome comes from the Latin words "velum" meaning palate, "cardia" meaning heart, and "facies" having to do with the face thus incorporating the most common features of cleft palate, heart defects, and a characteristic facial appearance.

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 the United States have this syndrome.

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 systems that influence the development of a child such as the:

  • Immune system (helps to fight off infections)
  • Endocrine system (the series of glands that secrete important compounds called hormones for normal growth and development)
  • Neurological system (brain control centers for learning, speech and hearing, and moods) have also been reported to be affected

The Velocardiofacial Syndrome Education Foundation Center for the Diagnosis, Treatment and Study of VCF Syndrome currently lists 185 reported findings in patients with velocardiofacial syndrome. It is important to realize none of these occurs 100 percent of the time.

It has also been realized that children with velocardiofacial syndrome are born with these features and that they do not progress over time. This comprehensive list serves as a guide for evaluating each individual to determine which areas may be affected so that the most complete therapeutic interventions can be provided to the child and their families.

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Velocardiofacial syndrome causes

Researchers have been interested in this question for a number of years. 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, including the Heart Center at Cincinnati Children's Hospital Medical Center.

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.

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What kinds of problems might a child have?

In addition to the characteristic physical features, a child with velocardiofacial syndrome may have:

  • 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

A child with velocardiofacial syndrome may have:

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Will my child need surgery?

For any child with velocardiofacial syndrome, depending on the presence and severity of various features, the following surgeries might be necessary:

  • Repair of heart defects (see list of specific congenital heart defects)
  • Repair of cleft palate
  • Repair / reconstruction of the lower jaw
  • Reconstructive surgery of the ears

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Velocardiofacial syndrome resources

Because various systems of the body in addition to the heart may be affected in patients with velocardiofacial syndrome, these children require a multidisciplinary approach to their medical problems.

In association with the Heart Center, all other necessary medical personnel such as Genetics, Ear-Nose-Throat, Neurology, Child Development, Immunology, Endocrinology and Plastic Surgical specialists are available at Cincinnati Children's.

Many additional resources exist to help parents and families find out more about velocardiofacial syndrome. These include:

Contact Cincinnati Children's Heart Center

Revised 9/06