About Stephanie Santoro, MD

Stephanie L. Santoro, MD, a board-certified pediatrician / clinical geneticist and an Assistant in Pediatrics at Harvard Medical School, has focused her career on improving medical care for individuals with Down syndrome through quality improvement techniques and established guidelines.  She is a graduate of the University of Cincinnati and the University of Cincinnati College of Medicine.  She completed a five-year combined pediatrics/medical genetics residency at Cincinnati Children’s Hospital Medical Center.  As an attending geneticist in Columbus, OH, she helped re-launch the adult Down syndrome clinic at Ohio State University, developed a genetics presence at the Nationwide Children’s Hospital Down syndrome clinic and worked with the clinic teams to make improvements to those clinics.  At MGH, she provides medical care to individuals with Down syndrome across the lifespan in the MGH Down Syndrome Program:  from prenatal diagnosis through adulthood.  She participates in clinical research and is launching quality improvement initiatives.

Dr. Santoro has served on the Down Syndrome Association of Greater Cincinnati’s health advisory board, the Down Syndrome Association of Central Ohio’s governing board and founded the medical advisory committee. 

Dr. Santoro has been invited to speak locally, regionally and nationally on topics including:  medical care for Down syndrome, best practice in delivering a diagnosis of Down syndrome and EHR integration.  She conducts research focused on aspects of health in Down syndrome, adherence to the American Academy of Pediatrics guidelines and successful methods to improve adherence.  

Departments, Centers, & Programs:

Clinical Interests:



Mass General for Children: Genetics Program
55 Fruit St.
Yawkey Center for Outpatient Care
Suite 6C
Boston, MA 02114
Phone: 617-726-1561

Medical Education

  • MD, University of Cincinnati College of Medicine
  • Residency, Cincinnati Children's Hospital

American Board Certifications

  • Clinical Genetics and Genomics, American Board of Medical Genetics and Genomics
  • Pediatrics, American Board of Pediatrics

Accepted Insurance Plans

Note: This provider may accept more insurance plans than shown; please call the practice to find out if your plan is accepted.


My research interest include:  Down syndrome, health and improving outcomes.  I am particularly interested in approaches to improve the quality of healthcare delivered to individuals with Down syndrome through adherence to published guidelines and clinic modeling.  At the MGH Down Syndrome Program, I am also involved in clinical trials and innovative research to improve access to care.  My particular interest is to conduct clinical research which translates back to provide evidence to improve the quality of care I deliver to my patients with genetic syndromes.


  • Select Publications:

    • Santoro SL, Bartman T, Cua CL, Lemle S, Skotko BG. Use of Electronic Health Record Integration for Down Syndrome Guidelines. Pediatrics. 2018;142(3):e20174119. doi:10.1542/peds.2017-4119
    • Capone GT, Chicoine B, Bulova P, et al. Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. American journal of medical genetics Part A. 2018;176(1):116-133.
    • Santoro S, Jacobson, T., Lemle, S., Bartman, T.  Integrating a Geneticist in a Multidisciplinary Clinic for Down Syndrome Increases Commitment to Genetic Counseling. Pediatric Quality & Safety. 2017;2(5).
    • Santoro SL, Yin H, Hopkin RJ. Adherence to Symptom-Based Care Guidelines for Down Syndrome. Clinical pediatrics. 2016.
    • Santoro SL, Martin LJ, Pleatman SI, Hopkin RJ. Stakeholder Buy-In and Physician Education Improve Adherence to Guidelines for Down Syndrome. The Journal of pediatrics. 2016.
    • Santoro SL, Esbensen AJ, Hopkin RJ, Hendershot L, Hickey F, Patterson B. Contributions to Racial Disparity in Mortality among Children with Down Syndrome. The Journal of pediatrics. 2016.
    • Basil JS, Santoro SL, Martin LJ, Healy KW, Chini BA, Saal HM. Retrospective Study of Obesity in Children with Down Syndrome. The Journal of pediatrics. 2016.
    • Santoro SL, Martin LJ, Hopkin RJ. Screening for Hematological Disorders in Mosaic Down Syndrome: Parent Report of Experiences. Clinical pediatrics. 2015.

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