Velo-cardio-facial syndrome, VCFS, also known as Shprintzen syndrome, is the second most common genetic syndrome after Down syndrome. It was discovered by Robert Shprintzen, Ph.D., a professor at SUNY Upstate in 1978. The National Institute of Health estimates that VCFS afflicts 130,000 Americans, approximately one in 1,600 babies are born with VCFS. but most people have never heard of it. VCFS is the result of a random mutation causing a small part of chromosome 22 to be deleted.

VCFS is so difficult to diagnose because of the wide range of medical complications, more than 180, which can be associated with it. Complications include immune disorders, congenital heart defects, aortic and artery abnormalities, feeding and speech disorders, cleft palate, autism spectrum disorder, and learning disabilities. It is also the single most significant genetic risk factor for developing psychiatric illness. Somewhere between 40 and 60 percent of those with VCFS are classified as mentally retarded although they seem to look and function better than their IQs might suggest.

There isn’t a cure for VCFS; each symptom must be treated individually, often through surgery. Researchers are currently investigating possible biochemical and gene therapy treatments.

VCFS is receiving more publicity since the son of the former executor editor of the Washington Post, Ben Bradlee and his wife, the journalist Sally Quinn, was diagnosed with VCFS at the age of 16. Quinn Bradlee, now 25, helped make a documentary about the syndrome for the International Center for VCFS. He is an aspiring filmmaker who studied at the New York Film Academy.

Prior to his diagnosis, Quinn Bradlee, spent most of his childhood in the hospital. His ailments included a hole in his heart, epilepsy, dyslexia, and a weak immune system causing him to be chronically ill. Most doctors, stumped by his problems, thought he would never be able to read, write, or make friends.

Quinn Bradlee is an intelligent man, although he continues to struggle daily with a different health issue. He also struggles with a mood disorder, which he recognizes and yet cannot control.


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