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Boston Children’s Hospital provides a wide range of diagnostic, treatment, consultation and advocacy services for children with velo-cardio-facial syndrome (VCFS). Until you meet with our team of doctors in the Cardiac Neurodevelopmental Program, Cardiology Department, Cardiovascular Genetics Program, Developmental Medicine Center, and the Genetics Division, you may find it helpful to read about VCFS provided in the following pages.
How common is VCFS?
Although less well known, VCFS is almost as common as Down syndrome. Current estimates place the incidence of VCFS in the range of 1 in 2,000 to 1 in 4,000 newborns.
Why does VCFS occur?
Chromosomes are small, threadlike structures composed of thousands of genes and found in every cell of the body. Normal cells contain 46 chromosomes (23 from the mother, 23 from the father), and each chromosome has a specific number. VCFS results from a defect in chromosome 22.
The condition may or may not run in a child’s family. It’s estimated that about 10 to 15 percent of cases are inherited. A parent with VCFS has a 50 percent chance of passing it on to the child.
What are the signs and symptoms of VCFS?
Every child with VCFS can exhibit different combinations of signs and symptoms, with differing degrees of severity. Some babies show signs of the condition at birth and others are diagnosed in a child’s first few years.
The most common symptoms include:
Facial features of children VCFS may include the following:
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