Myhre Syndrome Handbook & New Resources


Whether you’re newly navigating a diagnosis or looking to deepen your understanding, we have created a set of resources to support you. These documents were written or adapted with patients and families in mind—making complex medical and scientific information easier to digest and act on.

Below is a quick overview of three key documents with highlights to help you decide where to start. Translated documents will be coming soon.


1. Patient and Family Handbook (2025 Edition)
An easy-to-understand guide on Myhre syndrome. It covers what the condition is, how it’s diagnosed, what to expect at different life stages, and how to get support.

Highlights of the document:

  • Clear explanation of Myhre syndrome and how it affects the body

  • Explains the genetics of the condition in simple terms

  • Guidance on building a care team and organizing medical appointments

  • Overview of MSF events, resources, and clinics

  • Summary of MSF’s research priorities and how families can get involved

 
Click here to download the Patient and Family Handbook 2025.


2. GeneReviews Family Interpretation (2024 Update)
A family-friendly version of the official GeneReviews article on Myhre syndrome, explaining the medical features of the condition, system by system.


Highlights of the document:

  • Detailed descriptions of how Myhre affects the heart, lungs, brain, skin, and more

  • Suggested monitoring schedules and management tips

  • Helpful reference to share with your doctors or school medical team


Click here to download the GeneReviews 2024 Family Interpretation.


3. Research Paper Summaries (2022–2024)

A plain-language summary of three major studies on Myhre syndrome, explaining how symptoms can vary and how the condition progresses with age.

 Highlights of the document:

  • Summarizes key research from the US, Belgium, and France

  • Compares different SMAD4 gene variants and how they affect symptoms

  • Shows what we’ve learned so far about long-term outcomes

Click here to download the Plain Language Interpretation of Myhre Research Papers (2022-2024)

We would like to thank Dr. Angela Lin for helping create these documents, as well as our team of board members and volunteers, who reviewed them to ensure they meet the community's needs.

No material in this document is intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition or treatment.