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 EducationMay | 18 | 2017
Myhre Syndrome: What You Need to Know About the Genetic Cause
What is Myhre syndrome?
Myhre syndrome is a genetic condition that can be diagnosed at any age. Sometimes, the features can be overlooked or confused with another condition.
What are the signs of Myhre syndrome?
Every person who has Myhre syndrome is slightly different. Some common characteristics include:
- Short stature (short in height)
- Unique facial features, such as small eyes, small mouth or prominent (larger) chin
- Intellectual disability in some people
- Learning challenges in most people
- Hearing loss
- Joint problems
- Problems with airways (windpipe) and lungs
- Unique heart problems
- Thickened skin
What causes Myhre syndrome?
Myhre syndrome is caused by a change in 1 copy of the SMAD4 gene. In our bodies, genes act like instruction manuals for proteins. The proteins help our bodies develop, grow and work properly.
Myhre syndrome happens by chance. It is not caused by anything a parent did or did not do. When a gene changes by chance, it is called a de novo mutation.
Is there research being done on Myhre syndrome at MGfC?
Yes. Researchers at MGfC and Massachusetts General Hospital are very excited to learn more about this rare condition. Talk with your doctor to learn more about research on Myhre syndrome.
Did you know?
Myhre syndrome is one of several medical conditions that can happen when there is a change in the SMAD4 gene. Myhre syndrome is unique because the change causes the SMAD4 gene to work more rather than slow it down. When this happens, it is called a gain-of-function mutation.
Related Pages
Type
Centers and Departments
Topics
Patient Resources
Patient resources for the Myhre Syndrome Clinic
Related Content Article
- Patient Education
- Dec | 9 | 2019
Breathing Problems in People with Myhre Syndrome
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.
- Patient Education
- Nov | 12 | 2019
Myhre Syndrome: Tips for the PCP
Practical information to help a primary care physician (PCP) care for their patient and anticipate future needs.
- Patient Education
- Aug | 15 | 2019
Your First Appointment at the Myhre Syndrome Clinic
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.
- Patient Education
- Jul | 8 | 2019
Understanding Constipation in Myhre Syndrome
Constipation can make it uncomfortable to use the bathroom. In turn, an unpleasant experience with toileting can affect behavior, especially for young children.
- Patient Education
- Jul | 8 | 2019
What to Consider Before Visiting the Myhre Syndrome Clinic from Abroad
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.
1of
6