What is VCFS? Learn the Basics

Greetings - many thanks for this enlightening article.  I now believe my son who has miraculously reached 33 years of age may be a carrier of this syndrome.  He was diagnosed with Tetraology of Fallot, Pierre Roban Syndrome with a cleft palett and receeding lower mandibal and later on with Alers Danloff Syndrome. 

But only today did I realize the similiarities and especially the presenting facial features that confirm for me, the lay person, this is a very real possibility.

Aside from this is my son's difficulty with depression and intermittent lack of common sense, problem solving abilities and extremes of rage, have made it extremely difficult for his family to cope and with having a sibling who suffers uncontrolled epilepsy the family dynamics are stretched beyond what's healthy.

Thanks again for this amazing article.  Could you suggest some place I could find out more information in Toronto, Ontario?  Anything would be greatly appreciated.

Mama Bear

My son (2 years) was dignosed with VCFS at just under one month old. Thank you for your hard work if not for you and people like you my baby would not have lived past six months. His heart condition was not obvious. He never turned blue or had trouble eating or breathing. In fact he always had a oxygen level of 95 or higher. I am so grateful I can send my family here to try and understand what VCFS is and how it affects each child differently, that my son is one of the lucky ones. Thank you again for your dedication to VCFS and the families.

my name is marcia cuadra, i have a daughter that was born with spina bifida, she had surgery a repair a opening in her back, she have club feet, just had surgery in her legs. sh been in n outh of the hospital many time because she get sick easily.I just found out that she could have VCFS.i don't know what can i do to help her with this condition.your article help me to find out if she does have it i would do anything to help my daughter..

As a physician, I think that people should be certain to use this term so that you will get your doctor's attention.  Clearly this physician has made and is making significant contributions to our understanding of the VCFS microdeletion on Chromosome 22, but alas the moniker DiGeorge syndrome is more widely known.  One other thing to worry about:  people with the syndrome, in some cases, are more prone to immunological disorders (google "thymus").  One consequence is that should an individual with this require blood transfusion (of a cellular product, red cell or platelet), it should be irradiated to prevent graft-versus-host disease.  Thanks for this fascinating article.

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