The Myhre Syndrome Foundation has published the first analysis from our global Patient Registry, with information from 105 individuals across 24 countries. Families reported their own experiences with Myhre syndrome, including symptoms, daily challenges, and quality of life. This is the largest collection of Myhre syndrome data ever gathered, and it reflects real-world experiences directly from our community.

Why It Matters

The registry confirms that many parts of the body are affected, especially growth, joints, hearing, breathing, digestion, and neurodevelopment.
Families reported that GI issues, hearing loss, and respiratory problems have the biggest impact on daily life.
There are clear differences between the two most common SMAD4 variants (Ile500Val and Arg496Cys), which may guide future research and clinical trial design.
These findings validate what smaller medical studies have shown and provide a much stronger foundation for understanding how Myhre syndrome progresses.

Read the article here: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.32159

What’s Next

The Foundation will continue to:

Grow and update the registry so we can track changes over time and better understand progression.
Improve global access, including future translations and outreach to underrepresented regions.
Encourage families to upload genetic reports and complete yearly updates to strengthen the accuracy and power of the data.
Use these insights to shape future research priorities, natural history studies, and clinical trials aimed at improving care and treatment options.

If you haven’t joined the registry, or haven’t updated your information recently, we encourage you to participate. Every data point helps move Myhre syndrome research forward. Learn more about the patient registry: https://www.myhresyndrome.org/patient-registry