Biosketch

 

Born: 1946, Brooklyn, New York, USA

High School: New Rochelle High School, New Rochelle, NY, graduated 1964

College: University of Rochester, graduated 1968, BA Psychology major, Biology minor

Graduate Education:

  1. •University of Rhode Island: M.S., 1970, Speech Pathology, 2-year fellowship as part of a Psycho-Educational Diagnostic and Treatment Center.

  2. •Syracuse University: Ph.D., 1973, Speech Pathology, major emphasis in radiographic procedures and velopharyngeal anatomy and physiology, minor in Physiological Psychology.

  3. •Research Administration Fellow

  4. •Teaching Assistant for Dr. Louis DiCarlo

  5. •Supervisor, Cleft Palate Clinic, Upstate Medical Center

  6. •Doctoral thesis: A Three Dimensional Cinefluoroscopic Analysis of Velopharyngeal Closure During Speech and Nonspeech Activities in Normals under the mentorship of M. Leon Skolnick, M.D. and Gerald N. McCall, Ph.D. of Upstate Medical Center, Syracuse, NY.

Career:

•1973 – 1974: Assistant Professor at Auburn University, Auburn, Alabama

•1974 – 1997: Director, Center for Craniofacial Disorders, Montefiore Medical Center and the Albert Einstein College of Medicine, Bronx, NY. Assistant Professor of Plastic Surgery and Otolaryngology (1975-1978), Associate Professor of Plastic Surgery and Otolaryngology (1979-1984); Professor of Plastic Surgery and Otolaryngology (1984-1997).

•1997 – July, 2012: Upstate Medical University, Syracuse, NY

•Director, Communication Disorder Unit

•Director, Center for the Diagnosis, Treatment, and Study of Velo-Cardio-Facial Syndrome

•Director, The VCFS International Center at Upstate Medical University, Syracuse, NY 13210

•Professor of Otolaryngology, Professor of Pediatrics

2012 – Present: Founder, President and Chairman of the Board, The Virtual Center for Velo-Cardio-Facial Syndrome, Inc.

2013 – Present: Adjunct Faculty, Sacred Heart University, Department of Speech Pathology.


Publications: Dr. Shprintzen has written or coauthored more than 200 peer-reviewed articles, chapters, invited editorials, and invited commentaries. He has published in many medical journals, including:

•American Journal of Medical Genetics

•American Journal of Ophthalmology

•Archives of Otolaryngology

•Birth Defects Original Articles Series

•International Journal of Pediatric Otorhinolaryngology

•Journal of Craniofacial Genetics and Developmental Biology

•Journal of Pediatrics

•Laryngoscope

•Pediatrics

•Plastic and Reconstructive Surgery

•Sleep Medicine


Presentations:

Dr. Shprintzen has made over 1,000 presentations at state, national, and international meetings, including invited presentations in Australia, Bermuda, Brazil, Canada, Denmark, Egypt, France, Germany, Great Britain, Israel, Italy, Mexico, Monaco, The Netherlands, South Africa, Switzerland, Sweden, and Taiwan. His travels have taken him to more than 30 countries on every continent except Antarctica. He has presented at hospitals and universities in nearly every state of the union. He has been an invited consultant to over 200 hospitals worldwide, including over 50 children’s hospitals in the U.S., Europe, Asia, Australia, and Africa. He has been a visiting professor in Pretoria, South Africa and Stockholm, Sweden. He has been the keynote speaker at ten different national and international society meetings in Central and South America, Europe, and Asia.


Dr. Shprintzen has written or edited seven books:

  1. •Shprintzen RJ, Paul N (eds). Diagnostic Accuracy: Effect on Treatment Planning Volume 21(2), Birth Defects Original Article Series, New York:Alan R. Liss, Inc., 1985

  2. •Shprintzen RJ, Bardach J (eds). Cleft Palate Speech Management: A Multidisciplinary Approach. St. Louis: Mosby, 1994.

  3. •Shprintzen RJ. Genetics, Syndromes, and Communication Disorders. San Diego:Singular Publishing, 1997.

  4. •Shprintzen RJ. Syndrome Identification for Speech-Language Pathology: Illustrated Pocketguide. San Diego:Singular Publishing, 2000.

  5. •Shprintzen RJ. Syndrome Identification for Audiology: Illustrated Pocketguide. San Diego:Singular Publishing, 2001.

  6. •Shprintzen RJ, Golding-Kushner KJ. Velo-Cardio-Facial Syndrome, Volume I. San Diego:Plural Publishing, 2008.

  7. •Golding-Kushner KJ, Shprintzen RJ. Velo-Cardio-Facial Syndrome, Volume II. San Diego:Plural Publishing, 2011.

Honors and Awards:

•Honorary Fellowship, The American Society of Pediatric Otolaryngology, 1989.

  1. •Testified before a joint committee of the U.S. Congress on the care of children with craniofacial anomalies, 1989.

•Fellow, American Speech-Language-Hearing Association, 1991.

•Distinguished Achievement Award, New York State Speech, Language, and Hearing Association, 1992.

•Outstanding Clinical Achievement, American Speech-Language-Hearing Association, 1992.

•Distinguished Achievement Award, American Speech-Language-Hearing Association, 1993.

•Professional Achievement Award, New York City Speech-Hearing-Language Association, 1995.

•Outstanding Clinician, New York State Speech and Hearing Association, 1996.

•Distinguished Honors, Mt. St. Ursula Speech and Hearing Clinic Community Service Award, 1997

  1. •Robert J. Ruben Award fir excellence in research by The Society for Ear, Nose, and Throat Advances in Children, 2004.

•Honors of the Association: The American Speech-Language-Hearing Association, 2013.


Offices Held:

•Editor, Society for Craniofacial Genetics, 1980‑1982

•President‑Elect, Society for Craniofacial Genetics, 1982‑1983

•President, Society of Craniofacial Genetics, 1983‑1984

•Board of Directors, SENTAC, 1981‑1989

•Vice President, SENTAC (Society for Ear, Nose, and Throat Advances in Children), 1985‑1986

•President, SENTAC (Society for Ear, Nose, and Throat Advances in Children), 1986‑1987.

•Editor, The Cleft Palate Journal, American Cleft Palate Association, 1988‑1991.

•Executive Director, The Velo-Cardio-Facial Syndrome Educational Foundation, 1994-2003.

•President, Chairman of the Board, The Virtual Center for Velo-Cardio-Facial Syndrome, 2012 to present.


Grants:

  1. •Dr. Shprintzen has been Principal Investigator or Co-investigator on more than a dozen grants from the National Institutes of Health, The March of Dimes National Birth Defects Foundation, pharmaceutical companies, and a number of private foundations.

  2. •Principal Investigator, Aton Pharma, Phase II Clinical Trial, A Double-Blind, Placebo Controlled, Multi-Center Randomized Trial of the Safety and Efficacy of Metyrosine for the Treatment of Psychotic Disorders in Patients with Velo-Cardio-Facial Syndrome.


Major Accomplishments:

1. Four genetic diseases have been named after Dr. Shprintzen based on his identification of newly recognized multiple      anomaly syndromes:

•Shprintzen syndrome, MIM# 192430 (also known as velo-cardio-facial syndrome, DiGeorge syndrome, and 22q11 deletion syndrome), described in 1978 in the paper - Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD,Argamaso RV, Young D. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo‑cardio‑facial syndrome. Cleft Palate Journal, 15, 56‑62, 1978.


•Shprintzen-Goldberg craniosynostosis syndrome, MIM# 182212, described in the paper - Shprintzen RJ, Goldberg R. A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. Journal of Craniofacial Genetics and Developmental Biology, 2, 65‑74, 1982.


•Shprintzen omphalocele syndrome, MIM# 182210 , described in the paper - Shprintzen RJ, Goldberg RB. Dysmorphic facies, omphalocele, laryngeal and pharyngeal hypoplasia, spinal anomalies, and learning disabilities in a new dominant malformation syndrome. Birth Defects Original Articles Series, 15(5), 347‑354, 1979.


•Goldberg-Shprintzen syndrome, MIM# 609460 , described in the paper - Goldberg RB, Shprintzen RJ. Hirschsprung megacolon and cleft palate in two sibs. Journal of Craniofacial Genetics and Developmental Biology, 1, 185‑189, 1981.


2.

  1. •Together with a number of colleagues and parents of children with velo-cardio-facial syndrome, Dr. Shprintzen founded the Velo-Cardio-Facial Syndrome Educational Foundation in 1993. The Foundation was an international organization devoted to spreading information about the most common genetic syndrome in humans. He served as Executive Director of the Foundation from its inception until 2003. The organization grew from an initial membership of 300 to several thousand members around the world. Annual meetings have been held around the U.S., in Europe (France, England, and Italy), and Australia. The Foundation’s web site reached tens of thousands of people.

  2. •Dr. Shprintzen was one of the youngest people ever promoted to the rank of Full Professor at the Albert Einstein College of Medicine at the age of 39.

  3. •Dr. Shprintzen founded The Virtual Center for Velo-Cardio-Facial Syndrome, a unique approach to assuring that people with VCFS can receive the best possible care from local practitioners who may have little knowledge about VCFS. The web site at www.vcfscenter.com  is a truly unique organization that charges nothing for its services.

  4. •Dr. Shprintzen’s work has been highlighted in the media on many occasions, including The New York Times, Family Circle Magazine, The Washington Post, The Baltimore Sun, The Today Show on NBC television, The Doctor is In on PBS television, The Diane Rehm radio program on NPR, on national radio in Australia, on Australian Broadcasting Company television, The New York Daily News, The Syracuse Post Standard and other daily newspapers, NBC Evening News, ABC Good Morning America, and the CBS Evening News.

  5. •In 2013, Dr. Shprintzen was given the highest honor awarded by the American Speech-Language-Hearing Association (ASHA), Honors of the Association. See the statement from ASHA as shown on the Honors page on this website.

  6. •In 2004, Dr. Shprintzen was awarded the Robert J. Ruben Scientific Achievement Award by the international organization, The Society for Ear, Nose, and Throat Advances in Children. Previously, he had been awarded the Outstanding Clinical Achievement Award from the Americal Speech-Language-Hearing Association.

  7. •Dr. Shprintzen’s article describing VCFS is the frequently cited article in the entire history of The Cleft Palate-Craniofacial Journal, and Dr. Shprintzen the commonly cited author of articles cited in that journal over a period of more than 60 years even though he has not published in that journal for more than 20 years, choosing to publish in other higher impact journals, particularly in the field of genetics and psychiatry.

  8. •Dr. Shprintzen has authored or co-authored more than 220 articles and chapters in the medical literature. He has written or edited seven books, and has been an Editor for two professional societies and a reviewer for dozens of journals.

Students:

Dr. Shprintzen is exceptionally proud of his many students who he mentored over the years and who have gone on to become exceptional practitioners and researchers, responsible for many publications, innovations, and high positions in their chosen disciplines including speech pathology, endocrinology, clinical genetics, and more. He continues to stay in touch with them and work with them to this day.