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Matthew A. Deardorff , MD, PhD
Photo of Matthew A. Deardorff
Associate Professor of Pediatrics and Principal Investigator

Dr. Deardorff’s work integrates patient information with genomics and cell biology to diagnosis and understand rare genetic disease.  His research focuses on disorders caused by dysregulation of chromatin or altered translational regulation, specifically, Cornelia de Lange, Coffin-Siris, Skraban-Deardorff and KBG syndromes.



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Dr. Deardorff is a physician-scientist in the Division of Human Genetics at Children’s Hospital of Philadelphia. He is internationally known for his work on disorders of chromatin regulation. He is active in many areas of rare disease diagnosis and research including the Undiagnosed Diseases Network, the Roberts Individualized Medical Genetics Center, the Beckwith-Wiedemann Center of Excellence, and the Complex Vascular Anomalies Frontier Program. His clinical expertise includes dysmorphology, skeletal disorders and malformations, overgrowth and undergrowth disorders, cardiovascular genetics, and disorders related to chromatin regulation. His research expertise is involved in clarifying the role of genetic variants in disease and focuses on Skraban-Deardorff, Cornelia de Lange, Coffin-Siris and KBG syndromes, and other disorders caused by dysregulation of chromatin or altered translational regulation.

Education and Training

BA, Bucknell University (Biology, Chemistry), 1992

PhD, University of Pennsylvania (Cell & Molecular Biology), 1999

MD, University of Pennsylvania School of Medicine, 2001

Titles and Academic Titles

Attending Physician

Associate Professor of Pediatrics

Professional Memberships

American Society of Human Genetics, 1999-

American Academy of Pediatrics, 2001-

Cornelia de Lange Syndrome National Foundation, 2006

European Society of Human Genetics, 2008-

International Skeletal Dysplasia Society, 2009-

American College of Medical Genetics, 2011-


Professional Awards

Cornelia de Lange Syndrome USA Foundation Research Award, 2005

David W. Smith Workshop Fellow Award, 2005

Alavi-Dabiri Postdoctoral Fellowship Award for Research in Mental Retardation, 2006

David W. Smith Workshop Fellow Award, 2006

Philadelphia Genetics Group William Mellman Award, 2006

Philadelphia Foundation Young Investigator Award, 2007

Fellow Award, University of Pennsylvania McCabe Fund, 2009

American Academy of Pediatrics, Section on Genetics and Birth Defects, Young Investigator Award, 2010

Doris Duke Charitable Foundation Clinical Scientist Development Award, 2013

Laird S. Jackson Award, USA Cornelia de Lange Syndrome Foundation, 2014

Dean's Award for Excellence In Basic Science Teaching, Perelman School of Medicine at the University of Pennsylvania, 2014


Publication Highlights