What is VCFS? Learn the Basics

Related: VCFS

by Dr. Robert Shprintzen
Thursday, April 09, 2009

• As is true for all nearly all genetic syndromes, there is significant variation in the clinical expression. Some people with VCFS can lead normal lives, others may be very impaired.
• The syndrome has more than 190 clinical features. No one with the syndrome has all of them. Conversely, no one with the deletion from chromosome 22 has absence of at least some of the clinical features.
• The most common findings in VCFS are learning disabilities, congenital heart disease, palate and speech problems, and characteristic appearance of at least some facial features, such as the nose, eyes, or ears. However, nearly all people with VCFS are normal looking people.

Is there a cure for VCFS?

• No, there is no "cure" yet, but there are many very effective treatments.
• A very high percentage of the heart problems in VCFS are surgically correctible.
• The speech and palate problems can also be treated successfully in nearly all cases.
• Health related issues can usually be treated successfully.
• Learning problems can be improved, but new strategies for teaching children with VCFS are being researched right now.
• New research findings are leading to more effective treatments for the psychiatric problems in VCFS.