Velo-cardio-facial Syndrome (VCFS) is one of the most common genetic disorders in humans. With an estimated human population prevalence of 1:2000, Velo-Cardio-Facial Syndrome (VCFS) is the second-most common multiple anomaly syndrome in humans.
VCFS is also known as 22q11.2 deletion syndrome or Shprintzen Syndrome. Individuals with VCFS may have a variety of clinical findings but typically have cleft palate, heart abnormalities and learning disabilities. The vast majority of children with the syndrome have speech and language impairments that are generally recognized to be complex and difficult to treat.
Dr. D’Antonio had been a long-time colleague of Dr. Robert Shprintzen for whom the syndrome is often named. Because of her close collegial relationship with Dr. Shprintzen, Dr. D’Antonio became familiar with VCFS long before many clinicians believed that there was such a diagnostic entity. As a result, she has had many years of experience and extensive clinical expertise diagnosing and treating speech disorders associated with VCFS. Her work with VCFS has led to seminal research on the speech disorders associated with VCFS and she has written many scholarly papers and chapters on the topic and has spoken at many professional meetings on various aspects of the syndrome.
Dr. D’Antonio is a member of the panel of experts for the Virtual Center for Velo-Cardi-Facial Syndrome. This center is an internet based charitable organization that provides internet based information for individuals whose lives have been touched by the syndrome who are seeking information regarding research and clinical management. There is no charge for these services which are funded by charitable donations.
Virtual Center for Velo-Cardio-Facial Syndrome http://www.vcfscenter.com
Velo-Cardio-Facial Educational Foundation http://www.vcfsef.org/
Click here for some of Dr. D’Antonio’s writings on VCFS