Velocardiofacial Syndrome (VCFS) / 22q11 Deletion Syndrome

Velocardiofacial syndrome, or 22q11 deletion syndrome, is known by many names, including Shprintzen syndrome, craniofacial syndrome, DiGeorge 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.

VCFS includes many common features: cleft palate, heart defects and a characteristic facial appearance. Other common findings include minor learning problems and speech and feeding problems.

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 velocardiofacial syndrome, and more than 130,000 individuals in the United States have this syndrome.

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)

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. This comprehensive list serves as a guide for evaluating each individual to determine which areas may be affected.

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.

Causes of Velocardiofacial Syndrome

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. This diagnosis can rarely be detected on chromosome analysis. Microarray testing detects the deletion.

There is a specific genetic test for the diagnosis of this condition called a “FISH analysis” that can be performed in many medical centers, including the Heart Institute at Cincinnati Children's.

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 percent 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.

Associated Problems

Long face with prominent upper jaw
Underdeveloped lower jaw
Low set ears
Prominent nose with narrow nasal passages
Thin upper lip with a down-slanted mouth
Multiple abnormalities of the heart including ventricular septal defect (VSD), pulmonary atresia, tetralogy of Fallot, truncus arteriosus, interrupted or right-sided aortic arch and transposition of the great arteries
Learning disabilities in one or more areas
Hearing loss
Speech problems
Behavior problems, including anxiety, ADHD and depression

Need for Surgery

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

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. They need a whole team working together to treat each body system.

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

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

Cincinnati Children’s 22q-Velocardiofacial Syndrome Center

Cincinnati Children's Velocardiofacial Support Group

International 22q11.2 Foundation

Velocardiofacial Syndrome Education Foundation Inc.
Jacobsen Hall, Room 707
SUNY Health Science Center at Syracuse
750 E. Adams St.
Syracuse, NY 13210

This foundation was started by Robert Shprintzen. The foundation sponsors a newsletter and yearly conference.

22q and You Center
The Department of Clinical Genetics
The Children's Hospital of Philadelphia
One Children's Center
34th and Civic Center Boulevard
Philadelphia, PA 19104
E-mail: lunny@email.chop.edu

Children with Facial Difference: A Parent's Guide
Written by Hope Charkins, MSW
Published by Woodbine House, 1996
Phone: 1-800-843-7323

Last Updated 04/2019