MGfC Clinical Experts Lead International Myhre Syndrome Conference
Tapping expertise from Mass General for Children, the Myhre Syndrome Foundation launched its inaugural conference on July 10-11, 2021.
Patient EducationNov | 12 | 2019
Myhre syndrome is a rare, genetic syndrome that occurs when there is a change in one copy of the SMAD4 gene. Though rare, it is increasingly diagnosed because of greater awareness and molecular genetic testing. This page is not intended to be a complete review. Instead this provides some practical information to help a primary care physician (PCP) care for their patient and anticipate future needs.
Several excellent reviews are available online and can be found by searching these titles:
Under development at evidence-based guidelines.
If you and your patient are interested in learning more about the program or participating in our research, please contact Dr. Angela Lin, geneticist, at 617-726-1561
A family can seek a Remote Second Opinion.
For patients who have been seen at least once, Mass General offers a “Virtual Visit."
Rev. 2/2020. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.
Patient resources for the Myhre Syndrome Clinic
Tapping expertise from Mass General for Children, the Myhre Syndrome Foundation launched its inaugural conference on July 10-11, 2021.
Certain breathing problems are common in people with Myhre syndrome. Learn about breathing problems and how doctors diagnose and treat them in people with Myhre syndrome.
Welcome to the Myhre Syndrome Clinic at Mass General for Children (MGfC) and Massachusetts General Hospital! Learn what to expect and how to prepare before the first appointment, and meet members of the care team.
At the Myhre Syndrome Clinic, we are happy to help patients and families from all around the world. Medical care is different in every country. Learn important things to consider before scheduling your appointment.
Constipation can make it uncomfortable to use the bathroom. In turn, an unpleasant experience with toileting can affect behavior, especially for young children.
April Lanord's son, Alec Bruneau, was considered a medical mystery until he received a diagnosis of Myhre Syndrome, a very rare genetic condition, during childhood. Since coming to the Myhre Syndrome Clinic, Alec has found a new sense of confidence and comfort in who he is.