Myhre syndrome is a rare, genetic syndrome that occurs when there is a change in one copy of the SMAD4 gene. Though rare, it is increasingly diagnosed because of greater awareness and molecular genetic testing. This page is not intended to be a complete review. Instead this provides some practical information to help a primary care physician (PCP) care for their patient and anticipate future needs.


  • PCP to the Myhre Syndrome Clinic: We do not need all your office records. The most important include your most recent office note, reports of the genetic testing, imaging (brain MRI, echocardiogram) and the growth curve.
  • Clinic specialist to PCP: You will receive reports from the MGH Myhre Syndrome Clinic. Your patient can assist you by enrolling into Patient Gateway, which gives access to My Chart.
  • Among specialists: Dr. Angela Lin, co-director of the MGH clinic, tries to coordinate.
  • Parent to parent: We recommend the Myhre Syndrome Foundation (MSF).


  • Any surgery, especially ear and airway problems, should consult anesthesiology.
  • Sleep is often disordered and requires input from the PCP, family and specialists.
  • Your office staff may need to assist in obtaining pre-authorizations.


  • Health maintenance should include vaccinations.
  • Because proliferation is a feature of Myhre syndrome, some ear “infections” or “conjunctivitis” may be related to copious cerumen or nasolacrimal duct stenosis.
  • Behavior problems may be mild or disruptive.
  • Development is delayed in all patients. Speech is most affected. Autism spectrum is common.


Knowledge Base

Several excellent reviews are available online and can be found by searching these titles:

Under development at evidence-based guidelines.

If you and your patient are interested in learning more about the program or participating in our research, please contact Dr. Angela Lin, geneticist, at 617-726-1561

In Addition to Visting the MGH Myhre Syndrome Clinic, we offer:

A family can seek a Remote Second Opinion.

For patients who have been seen at least once, Mass General offers a “Virtual Visit."

Rev. 2/2020. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.