We have created a handbook that guides you through

• What Is Myhre Syndrome?

• How Is It Diagnosed & What Do The Genetics Mean?

• Diagnosis & Beyond

• Thinking Ahead

• Myhre Syndrome Foundation Support

• The Myhre Syndrome Clinic

• Patient and Family Interpretation of GeneReviews 2022

  • Summary

  • Diagnostic Testing of Myhre Syndrome

  • Clinical Characteristics/Treatment/Management of Symptoms

  • Prevention of Secondary Complications

• Resources

  • Appointment Notes Template

  • Overview Of Care Team Template

  • Medical & Radiology Terminology

  • Patient Registry Data

This handbook is available in English, Spanish, French, Italian, German and Dutch.

Click the links below to download.

English | Spanish | French | Italian | German | Dutch

We would like to thank Dr. Angela Lin, Dr. Lois Starr, and Dr. Lisa Schimmenti for developing the handbook with us.

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.