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Genetics: Noonan Syndrome

Course Description | Faculty | Accreditation | General Information

Course Description

Acknowledgement: This online activity is supported by educational grants from Celera and the Applera Charitable Foundation.

It is estimated that as many as 1/1000 individuals are affected with Noonan syndrome, which has a highly variable presentation even within the same family. It is not uncommon for a mildly affected parent not to be diagnosed until adulthood when they have a more severely affected child. This CME activity should help providers recognize the possible presentations of Noonan syndrome, order appropriate testing, and manage patients.

Original Release: 12/3/2009
Most Recent Update: 4/25/2012
Termination Date: 4/25/2015

NUMBER OF CREDIT HOURS: The Harvard Medical School designates this enduring material for a maximum of 1 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

This course should take approximately 1 hours to complete.

COST: COST: $25.00

At the conclusion of this case study, participants should be able to:

  1. Identify the physical exam features found in Noonan syndrome.
  2. Know the potential medical issues for children with Noonan syndrome.
  3. Understand the molecular genetic causes of Noonan syndrome.
  4. Know the screening recommendations and anticipatory guidance for children with Noonan syndrome.
  5. Understand the inheritance pattern and recurrence risk to families.


Registrants participate in the learning process by answering interactive multiple choice questions that are dispersed throughout the case presentation. You must answer a question correctly in order to continue through the course. If you answer a question incorrectly, you will be prompted to try again.

In order to earn credit, physicians must complete the entire educational activity before the termination date (see above). Non-physicians may register for the course but are not eligible for AMA PRA Category 1 Credits™. Instead, non-physicians will earn a certificate of participation after successfully completing the course before its termination date.


This internet enduring material is a case-based, interactive presentation comprised mainly of text, interactive questions, and images. A variety of media, including video clips, audio clips, and Flash animation, may be presented. Links to any necessary plugins are provided when necessary, but no plugins are required for general use of the CME website, and you may skip the multimedia presentation(s) within the course if you choose.

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Course Director
Amy Roberts received her MD from Dartmouth Medical School. She completed a residency in pediatrics at the University of Massachusetts and then a residency in clinical genetics at Harvard Medical School. She is now Assistant Professor in Medicine at Harvard Medical School and in the Department of Cardiology at Children’s Hospital Boston. She has focused her clinical practice on cardiovascular genetics and her research interests include Noonan syndrome and related disorders, cardiomyopathy, and the genetic causes of isolated heart disease. She is also involved in resident education as the Co-Director of the Harvard Medical School Medical Genetics Residency and Children’s Hospital Boston Pediatrics Residency combined training program and as the Co-Director of the Brigham and Women’s Hospital Maternal Fetal Medicine and Harvard Medical School Medical Genetics Residency Combined Training Program.

Disclosure information not received.

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Dr Judith E Allanson is Chief, Department of Genetics, Children's Hospital of Eastern Ontario and Professor of Pediatrics at the University of Ottawa. She received her MB ChB degree from Liverpool Medical School and trained in Internal Medicine in Britain. Her Fellowship in Medical Genetics, University of British Columbia, was under the mentorship of Dr Judith Hall. Her research interests over the last 20 years have focused on the evaluation of facial dysmorphisms and methods of syndrome identification. She has developed objective techniques for facial evaluation, has published studies of their use in many multiple congenital anomaly syndromes, and co-authored a “Handbook of Physical Measurements”. She is co-editor of a book on management of common genetic syndromes and co-editor of the standard genetics textbook: “Syndromes of the Head and Neck”. Dr Allanson is co-chair of the Canadian Institutes of Health Research, Institute of Genetics and Institute of Health Services and Policy Research, strategic initiative on health services research in genetics. She is a member of GeneSens, an interdisciplinary health services research team based in Ottawa, and is involved in research on how we evaluate genetic services and introduce new technologies within a universal health care system; the psychosocial impact of genetics services; models of genetics service delivery; the understanding, perception and application of genetic knowledge by primary care providers; the provision of enhanced newborn screening; and the translation of gene discoveries into health benefits for Canadians.

Reported no relevant financial relationships with commercial entities.

Dr. Jacqueline Noonan has been caring for children with heart disease for over 50 years. She is known internationally for her description of a syndrome in 1962 which has been called Noonan syndrome. She came to the University of Kentucky in December 1961 and served as director of pediatric cardiology until her retirement in 1999. She served as chairman of pediatrics from 1974 to 1992. Since retiring she has continued to maintain a post retirement faculty appointment and continues to teach, write and see children with heart problems in clinics throughout Eastern Kentucky. Dr. Noonan received a BA from Albertus Magnus College and an MD from the University of Vermont in 1954. After a rotating internship at Chapel Hill North Carolina she completed a pediatric residency at Cincinnati Children’s Hospital. She then completed a fellowship in pediatric cardiology at Boston Children’s Hospital She has been active in many professional societies including the American College of Cardiology, American Heart Association, American Academy of Pediatrics, American Pediatric Society, Society for Pediatric Research and the Irish and American Pediatric Society. She has also served on public advisory boards such as the National Institute of Health and the National Board of Medical Examiners. She has published extensively and been visiting professor throughout this country as well as many countries throughout the world. She has received many honors including the Founders Award from the Pediatric Cardiology section of the American Academy of Pediatrics, Founder Award from the Southern Society for Pediatric Research and an Honorary Fellowship from the Royal College of Physicians of Ireland and in 2008 received a Lifetime Achievement Award from Castle Connolly.

Novonordisk: Serve on medical advisory board

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Course Planners
Dr. Sanjiv Chopra is Professor of Medicine at Harvard Medical School. He is also the the James Tullis Firm Chief in the Department of Medicine and a Senior Consultant in Hepatology at the Beth Israel Deaconess Medical Center, Boston. He served as Faculty Dean for Continuing Education at HMS for 12 years. Dr. Chopra has more than 150 publications and seven books to his credit. Dr. Chopra is Editor-in-Chief of the Hepatology Section of UpToDate, the most widely used electronic textbook in the world subscribed to by more than 850,000 physicians in 149 countries. He is also the recipient of numerous awards and accolades. For a complete bio, click here.

Reported no relevant financial relationships with commercial entities

Erin K. Harvey, MSc, CGC, was the Assistant Director of Education for Partners Healthcare Center for Personalized Genetic Medicine (PCPGM) from 2008 to 2011. She is a board-certified genetic counselor and has worked with a wide range of primary healthcare professionals in the development of genetics-related, case-based continuing medical education (CME). In addition to being the series editor for PCPGM’s genetics CMEs, she coordinated an advanced human genetics course for Harvard Medical School’s Clinical Genetics Residency training program. In 2011, she accepted a position with Genzyme as a Scientific Communications Principal for the Personalized Genetic Health division. Prior to joining PCPGM, Ms. Harvey spent five years with the National Coalition for Health Professional Education in Genetics, and was seconded for one year to the United Kingdom to help a similar organization there – the National Genetics Education and Development Centre – create genetics resources for the UK’s nationalized medical education curriculum. Ms. Harvey received her master’s degree in science in 2003 from the Johns Hopkins University/National Institutes of Health joint genetic counseling training program. She received a B.A. in English Writing from St. Edward’s University in Austin, Texas in 1993, and worked as a journalist prior to pursuing a career in the biological sciences.

Reported no relevant financial relationships with commercial entities

Andi Long directs the Department of Continuing Education’s Distance Learning group, which offers a variety of online continuing medical education programs to health care professionals around the world. Andi develops strategies for new pilot programs and systematically rolls out new distance learning initiatives and has a leadership role in IT planning and other online processes for HMS DCE. She oversees the day-to-day operations of each distance learning activity and ensures ACCME compliance across all enduring programs. She has had the privilege of working with hundreds of Harvard Medical School Faculty members to develop high-quality, engaging online programs that physicians in more than 170 countries have taken part in. Andi earned her Ed.M. in Technology, Innovation, and Education from Harvard Graduate School of Education and graduated from Bridgewater State College with a degree in English. Her professional interests focus on teaching and learning with new technologies and online course development.

Reported no relevant financial relationships with commercial entities

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The Harvard Medical School is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

The Harvard Medical School designates this enduring material for a maximum of 1 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

This course should take approximately 1 hours to complete.

Within 2 weeks of completing the course, you will receive your certificate via email.

Click the image to view a sample of the certificate

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General Information


Any computer running Windows, Mac OS, or Unix machines are supported.

Internet Connection
Your computer should be configured to access the Internet. A high speed internet connection may be required to view some of the large multimedia files.

Firefox or Internet Explorer 5.5 or higher are recommended. JavaScript and cookies must be enabled.

Some of the multimedia resources in this course require Apple Quicktime, RealMedia, or a Flash player. You will be prompted to download the appropriate plugin when necessary. No plugins are required for general use of the CME website, and you may skip the multimedia presentation(s) within the course if you choose.


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