Velo-cardio-facial syndrome (VCFS)

Evaluation and diagnosis of velo-cardio-facial syndrome (VCFS) is performed by a team of specialists  from various programs at Boston Children’s Hospital, including the Cardiac Neurodevelopmental Program, Cardiology, Developmental Medicine Center, Genetics, Neurology, and Psychiatry. Using a multidisciplinary approach allows us to gain a better understanding of your child’s specific medical concerns. 

How is velo-cardio-facial syndrome diagnosed?

Genetic tests are used to diagnose VCFS, but the following tests may also be performed to rule out or identify problems associated with VCFS:

These can include tests of organ systems, such as:

• Cardiac ultrasound (echocardiogram) to detect heart problems
• Kidney ultrasound to detect kidney abnormalities
• X-rays to evaluate the musculoskeletal system
• Blood tests to evaluate calcium levels and immune system