What is VCFS? Learn the Basics

Related: VCFS

by Dr. Robert Shprintzen
Thursday, April 09, 2009

What is VCFS?

• Velo-cardio-facial-syndrome (VCFS) is the most common genetic multiple anomaly syndrome after Down syndrome.
• Velo refers to abnormalities of the soft palate (called the velum) that affect speech, cardio refers to congenital heart disease, and facial refers to a typical, although not abnormal facial appearance. These are only three of more than 190 possible clinical features of this syndrome.
• VCFS is also known as Shprintzen syndrome, after Dr. Robert J. Shprintzen of the Upstate Medical University in Syracuse, New York who identified it in 1978. He published 12 cases in 1978 and has since written many articles, chapters and books about the syndrome.
• VCFS was the name given to this syndrome by the person who first described it; VCFS is also called 22q11 deletion syndrome because the syndrome is caused by a deletion of DNA from chromosome 22. The syndrome is also called Shprintzen syndrome, DiGeorge syndrome, and a number of other names because of contributions made by the scientists who identified early cases. Although the names vary, the syndrome is the same.
• VCFS is known as a microdeletion syndrome because a segment of DNA containing multiple genes is missing from one copy of chromosome 22. It is also known as a multiple anomaly syndrome because many body parts and systems are affected.

Who can get VCFS?

• No one is immune from VCFS it affects all races and ethnic and socio-economic groups.
• Only a small percentage of children inherit VCFS from an affected parent. More than 90 percent of people have it as the result of a new spontaneous mutation.
• There is an equal distribution of males and females.

How common is VCFS?

• VCFS is the most common microdeletion syndrome in humans.
• VCFS is the most common syndrome associated with congenital heart disease.
• VCFS is the most common syndrome associated with cleft palate and palatal dysfunction.
• VCFS is the most common genetic cause of psychosis known to scientists today.
• VCFS is the most common syndrome associated with learning disabilities.
• VCFS is found in one in every 2000 people in the U.S., but one in every 1600 babies is born with it.
• A baby with VCFS is born every three hours in the U.S.
• There are approximately 150,000 people in the U.S. who have VCFS.
• There are millions of people worldwide who have VCFS.

What causes VCFS?

• In most cases, VCFS is caused by a deletion of 40 genes from one copy of chromosome 22, one of our smallest chromosomes. In some cases, 30 genes are missing.
• In more than 90% of cases, the deletion of these genes occurs as a brand new mutation that occurs during the production of either sperm cells or egg cells.
• Once a person has VCFS, it is transmitted as an autosomal dominant genetic disorder to their children, meaning that for each pregnancy established, there is a 50% probability that the child will have the syndrome.
• VCFS can be detected prenatally by amniocentesis or chorionic villus sampling.

Are all people with VCFS the same?