Latest News

  • We are proud to announce a $450,000 grant to fund a groundbreaking research project designed by Genethon, collaborating with Professor Valérie Cormier-Daire (Genomic Medicine Service for Rare Diseases, Necker-Enfants Malades Hospital) in France. Read more here

  • We’re thrilled to announce a special Rare Disease Day 2025 event—the Myhre Masterpieces Art Auction! We’re inviting members of the Myhre community to create one-of-a-kind artworks that will be featured in our art auction. Learn more here

  • We are delighted to share the latest Myhre Syndrome Patient Registry data, and we want to express our gratitude to the Scientific Committee for creating the report.

    The report includes demographic information and symptom updates. It represents an incredible 22 countries and almost half of Myhre syndrome's reported population! But we’d love to get that number to 100%, so please let us know if you have questions or need help filling out the questionnaire.

What do we do?

Myhre Syndrome Foundation is a patient advocacy organization dedicated to providing hope and improving the lives of those impacted by Myhre syndrome.

We foster collaboration among all relevant stakeholders to build a strong, global community in order to advance research, as well as support, educate and advocate for those impacted by Myhre syndrome.

Myhre Syndrome

Myhre syndrome is an extremely rare genetic disorder, caused by a mutation in the SMAD4 gene. There are less than 200 confirmed cases of Myhre syndrome worldwide and true numbers are unknown. We hear of new cases each year as awareness grows.

You can see a map here of where people with Myhre and their families live.

Read our 2022 and 2023 Annual Report.