New advances and procedures concerning Velo-Cardio-Facial Syndrome are constantly being developed. Be an advocate for your child!
What is Velo-cardio-facial Syndrome?
Velocardiofacial Syndrome, also known as VCFS or as 22q11.2 Syndrome or as DiGeorge Syndrome, is the most common syndrome associated with cleft palate. Approximately 1 in 2,000-5,000 children are born with VCFS. Characteristics include:
A long face with a prominent upper jaw
Flattening of the cheeks
An underdeveloped lower jaw
A bluish color below the eyes
A prominent nose with narrow nasal passages
A long thin upper lip and a down-slanting mouth
Cleft palate or submucous cleft palate
Why did this happen?
Velocardiofacial Syndrome is an autosomal dominant condition. Genetic studies of children with this condition show that a microscopic segment on the long arm of chromosome 22 is missing. The genetic test for diagnosis of this condition is called "FISH analysis" and can be performed in many medical centers. It is not because of anything the mother did or did not do during the pregnancy.
Will this happen to children I have in the future?
If neither parent has VCFS, the chances are small that other children will be born with VCFS. If one parent is affected, there is a 50% chance that he or she will pass VCFS to a child. Genetic testing can be done to identify the presence of VCFS.
What kinds of problems could my child have?
In addition to the physical characteristics common to VCFS, your child could have some of the following problems:
Multiple abnormalities of the heart
Learning disabilities in one or more areas
Problems with speech
Extremes of behavior
Will my child need surgery?
Depending on the severity of Velo-cardio-facial Syndrome, your child may have some or all of the following surgeries:
Repair of the cleft palate
Repair of the lower jaw
Reconstructive surgery on the ear
Surgery to repair other facial features
How do I get help for my child?
Your child should be treated by a qualified craniofacial medical team at a craniofacial center. Currently, FACES has information on many of these teams. This is by no means a comprehensive list of all the craniofacial teams.
Please Contact Us for details.
Am I alone?
No! There are many families and organizations who will be glad to talk with you and help you with information and support. Don't forget books, videos, and websites. The information below will help you get started. (Facebook has dozens of private groups specific to conditions. Try searching Facebook with a few different key words such as "craniofacial" or "burn" and find groups of parents and others with similar differences.)
FACES: The National Craniofacial Association
We provide financial support for non-medical expenses to patients traveling to a craniofacial center for treatment. Eligibility is based on financial and medical need (Apply Here). Resources include newsletters, information about craniofacial conditions, and networking opportunities. Contact Us for more information.
Virtual Center for VCFS
Excellent resource!! This very informative group was started by Dr. Robert Shprintzen and has grown quickly.
The Vascular Birthmarks Foundation
The Vascular Birthmark Foundation is an international charitable organization that networks families affected by a vascular birthmark, tumor, or syndrome to the appropriate medical professionals for evaluation and/or treatment, provides informational resources as well as sponsors physician education, mobilizes medical missions trips, and supports research and programs that promote acceptance for individuals with birthmarks.
US National Library of Medicine
Your guide to understanding genetic conditions
National Health Law Program
Provides extensive information on health care law affecting families with children who have special health care needs.
Phone: (202) 289-7661
Web site: healthlaw.org
Children with Facial Difference:
A Parent's Guide
Written by Hope Charkins, MSW. Excellent resource for parents to help them cope with medical, emotional, social, educational, legal, and financial challenges presented by facial differences of their children. Order from Amazon.com if you cannot find it in your local bookstore.
The Cleft Palate Story
Written by Samuel Berkowitz, DDS, MS, FICD.
Surgical procedures performed from birth to adolescence are treated in depth; helps parents to understand options and what to expect; appendices on financial assistance, agencies, support groups, and a glossary of terms.