Robert J. Shprintzen, Ph.D. is President and Chairman of the Board. Better known as Bob to those who know him, and sometimes “Dr. Bob” to those he has cared for over the years, he is often credited for having discovered velo-cardio-facial syndrome (VCFS) because of an article he published in the medical literature in 1978. Dr. Shprintzen, trained as a speech-language pathologist, developed a strong interest in genetics and became very active in the field of what was called “syndrome identification” or “dysmorphology” early in his career. In 1978, he described 12 patients and provided a detailed analysis of the clinical findings including a familial case passed from mother to daughter. Following that first report, Dr. Shprintzen went on to publish many articles with an expanding list of cases and findings from 1978 through 1992. Most of the world’s medical literature on VCFS was coming from Dr. Shprintzen and his colleagues at Montefiore Medical Center and the Albert Einstein College of Medicine in the Bronx, NY. During that time, Dr. Shprintzen was also credited with discovering three other syndromes, all of which bear his name in the medical literature: Shprintzen-Goldberg craniosynostosis syndrome; Shprintzen omphalocele syndrome; and Goldberg-Shprintzen syndrome.  These three disorders, all very rare, have been since been studied by other researchers. Dr. Shprintzen has devoted most of his research time and clinical time to VCFS because it was seen so frequently. Patients have come to see him from all over the world. 

 

In 1992, Dr. Shprintzen opened the VCFS Institute, a facility devoted only to VCFS and staffed by a comprehensive interdisciplinary team. The pediatrician on that team was Alan Shanske, M.D. who is another of our team members here at the Virtual Center, and speech pathologist, Karen J. Golding-Kushner, Ph.D., was the speech pathologist while she also directed the craniofacial center at Montefiore. In 1997, Dr. Shprintzen took a new position in Syracuse, NY at Upstate Medical University where he opened the Velo-Cardio-Facial Syndrome International Center, building another comprehensive interdisciplinary team that saw patients from nearly every state in the U.S.A. and from more that 20 countries in Europe, South America, Asia, and Africa. He also implemented the Distance Care Program to manage care for patients who lived too far to come to the VCFS Center in person. The Clinical and Research Coordinator of the VCFS International Center was Anne Marie Higgins, R.N., F.N.P., M.A. who is now coordinating this Virtual Center. In 2012, Dr. Shprintzen retired from Upstate Medical University and took his nearly 40 years of experience building and directing interdisciplinary programs to a new level in order to reach people from all over the world with the most sophisticated up-to-date information about VCFS that can be transmitted to their health care professionals locally. The Virtual Center for Velo-Cardio-Facial Syndrome, Inc. is an evolutionary step in the field of genetic disorders. It melds the advantages of cutting edge low cost applications of the internet and electronic communications with scientists and clinicians who have a combined 125 years of experience in dealing with VCFS. When asked why this new approach was taken, Dr. Shprintzen said:

"I have been working in academic medical settings for almost 40 years and have seen more and more obstacles being placed in front of clinicians and scientists who would prefer to apply 100% of their efforts to helping people, but who are distracted by administration, bureaucracy, and the demands of making programs profitable. In today’s environment, costs are high, income is low, and institutions can be unforgiving if the balance sheet shows red ink. With new changes and regulations on the horizon that will make things even more difficult, it was time to think of innovative ways to provide people touched by rare disorders with the tools they need to get the best possible assistance for themselves or their children."

Dr. Shprintzen has published more than 220 journal articles, dozens of chapters and monographs, and 7 textbooks including two solely devoted to VCFS with co-author Dr. Karen Golding-Kushner and one volume for the March of Dimes Birth Defects Foundation. He has also produced numerous videos including two productions about genetic syndromes for the March of Dimes in the 1980s. He was promoted to the rank of full Professor in 1985, one of the youngest faculty members to ever achieve that distinction at Einstein.  He has been an invited speaker in 25 countries in Europe, Asia, Africa, Australia, and North and South America. He has lectured at more than 200 hospitals worldwide and been the keynote speaker at meetings in more than 10 countries in Europe, Asia, and Latin America. He has won numerous awards and honors and has been the recipient of many grants from both governmental and nongovernmental sources. He has been the President of two international medical societies, The Society for Craniofacial Genetics and The Society for the Advancement of Ear, Nose, and Throat Advances in Children (SENTAC). He was Editor-in-Chief for the Cleft Palate and Craniofacial Journal. He founded the Velo-Cardio-Facial Syndrome Educational Foundation and served as its first Executive Director for 8 years. He has won many awards and honors. He was the first person to be named an honorary Fellow of the American Society of Pediatric Otolaryngology, and won the Robert J. Ruben Award for Scientific Excellence from SENTAC. The American Speech-Language-Hearing Association (ASHA) presented him with awards for outstanding clinical achievement, and most recently, he was given ASHA’s highest award, The Honors of the Association, in 2013. Coincidentally, another of our experts, Dr. Maurice H. Miller also was given the same award in 2013 for his outstanding work in the field of Audiology. Having two recipients of this award in one organization is quite an accomplishment.