Velo-Cardio-Facial Syndrome (VCFS)

What is VCFS?

Velo-cardio-facial syndrome (VCFS) is a genetic condition that causes a combination of medical problems. These problems can vary widely from child to child, but may include heart defects, cleft palate, speech or feeding problems, difficulty fighting infections, low calcium levels, kidney problems, learning or behavioral issues, and facial differences.

It’s estimated that about 1 in 2,000 to 4,000 children are born with VCFS.

What are the causes of VCFS?

Most children who have VCFS are missing a part of chromosome 22. The specific area of the chromosome that is missing is 22q11.2. For this reason, VCFS is sometimes called the 22q11.2 deletion syndrome.

About 10 to 15 percent of cases are inherited. A parent with VCFS has a 50 percent chance of passing it on to their child.

What are the symptoms of VCFS?

Children with VCFS can have a wide range of signs and symptoms, with differing degrees of severity. Some babies show signs of the condition at birth and others are diagnosed in the first few years of life.

Common symptoms include:

  • speech difficulties
  • middle ear infections or hearing loss
  • vision problems
  • feeding problems
  • frequent infections
  • learning disorders, especially with visual materials
  • developmental delays
  • communication and social interaction problems

Facial features may include:

  • small ears with squared upper ear
  • hooded eyelids
  • Cleft lip and/or palate
  • Asymmetric facial appearance when crying
  • Small mouth, chin and side areas of the nose tip

How we care for VCFS

Boston Children’s Hospital provides a wide range of diagnostic, treatment, consultation and advocacy services for children with VCFS. Our experts the Cardiac Neurodevelopmental Program, Cardiology Department, Cardiovascular Genetics Program, Developmental Medicine Center, and Genetics Division are experienced in caring for children who have VCFS.

We advance care through early diagnosis and evidence-based protocols geared to specific disorders such as VCFS, in order to maximize the quality of children's lives.