Faculty

Robert J Shprintzen, Ph.D.

Professor, Communication Disorder Unit
STE504 CIM Physicians Office Bldg. - 725 Irving Ave.
Upstate Medical University
750 East Adams Street
Syracuse, NY 13210

Lab/Professional Web Site

Education and Clinical Training

Ph.D.: 1973, Syracuse University

Clinical Specialty

Communication Disorders

Clinical Department/Section Affiliations

Otolaryngology and Communication Sciences/Communication Disorder Unit

Clinical Interests

Clinical genetics, pediatric upper airway pharyngeal physiology, cleft palate craniofacial anomalies, feeding and swallowing disorders, velocardiofacial syndrome (VCFS)

Research Program and Department Affiliations

Otolaryngology and Communication Sciences
Pediatrics

Research Interests

Genetic basis of communicative disorders; molecular and clinical genetics of velo-cardio-facial syndrome; velopharangeal anatomy and physiology;evolutionary aspect of speech

Research Abstract

Velo-cardio-facial syndrome (VCFS) is the most common microdeletion syndrome and one of the most common multiple anomaly syndromes in humans. It was first described by Shprintzen et al. in 1978. Over 190 anomalies have been delineated in the syndrome, the most common of which are the behavioral manifestations. Learning disabilities, psychiatric illness, attention deficit disorder, and a variety of developmental disorders are nearly ubiquitous findings in VCFS and are not mutually exclusive, often overlapping to create a distinctive yet confusing phenotypic picture. In addition, standard treatments for each of these separate clinical findings may not be effective, and may even be potentially harmful in individuals with VCFS. VCFS is caused by a \deletion of DNA from the long arm of chromosome 22. We are currently studying the deletion located at 22q11.2 because of the possibility that a firm genetic link to psychiatric illness and learning disorders may be found. We are studying the behavioral manifestations of VCFS, emphasizing the overlap between the cognitive and psychiatric disorders that are so common in this syndrome. We are also studying anatomic findings in the syndrome in practically every organ system. We are tracking treatment outcomes in all areas of the syndrome and applying that information to our practice. The VCFS International Center sees patients from all over the world and we pride ourselves on individualized care for people with VCFS.

Selected References

Shprintzen RJ, Higgins AM, Antshel K, Fremont W, Roizen N, Kates W. Velo-cardio-facial syndrome. Current Opinions in Pediatrics, 17:725-730, 2005.

Shprintzen RJ. Velo-cardio-facial syndrome. Prog Pediatr Cardiol, 20, 187-193, 2005.

Shprintzen RJ. Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev 14:3-10, 2008.

Shprintzen RJ and Golding-Kushner KJ. Velo-Cardio-Facial Syndrome, Volume 1. San Diego:Plural Publishing, 2008.

Publications - link to PubMed

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Additional Information

Dr. Shprintzen has published 6 books and more than 30 chapters in scholarly texts. He was President of the Society of Craniofacial Genetics and Developmental Biology (1983-1984), President of the Society for Ear, Nose, and Throat Advances in Children (1986-1987), Editor-in-Chief of The Cleft Palate-Craniofacial Journal (1988-1991), and Founder and Executive Director of The Velo-Cardio-Facial Syndrome Educational Goundation, Inc. (1994-2003).

This profile was last updated on 01/26/2009

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