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. 

• 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 

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 

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-VCFS Clinic

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