Myhre Syndrome Program
617-726-1561
Personalized care
Myhre syndrome is a rare genetic condition caused by changes in the SMAD4 gene. It can affect connective tissue throughout the body and lead to a variety of health concerns involving internal organs, bones and joints, skin, heart and blood vessels, lungs and airways, hearing, vision, behavior, learning, and development. There is a wide spectrum of how each person is affected. Although many people have several typical features of Myhre syndrome, each person is unique and our care is customized.
We create a “Myhre syndrome medical home” and work with your child’s PCP to help them enjoy the best quality of life. We tailor each visit to meet your family’s distinct needs. We take the time to answer your questions and listen to your concerns. Depending on your child’s needs, they may see multiple specialists and get diagnostic tests.
Part of Mass General Brigham for Children
Our approach to Myhre syndrome
- Dermatology
- Speech therapy
- Genetics
- Cardiology
- Pulmonology
- ENT
- Physical therapy
We will review each person’s history to decide which specialists to see.
Before we meet with your family, we request that you:
- Ask your primary care provider or geneticist to send us a referral letter (617-726-1566).
- Complete a preclinic questionnaire.
- Give our care team access to view your child’s electronic medical records in Epic by selecting “care everywhere.”
- Send your child’s medical records to us if they have received care from outside providers.
- Enroll in Patient Gateway, which is our secure email.
During the first visit to our Myhre Syndrome Program, our care team will review your child’s:
- Preclinic questionnaire
- Local team of providers
- Past medical care, including genetic tests, heart tests, specialty consultations, and procedures
- Current medical and educational care plan
The frequency of your child’s follow-up visits is unique to their needs. In general, we see patients every 1 to 3 years. In rare cases, we may need to see a child every 6 months. Your child mostly receives care from their PCP and other specialists, as needed. You can contact us any time with questions or concerns. Please tell us about any health changes or concerns.
Follow-up visits to the Myhre Syndrome Program help to:
- Detect potentially treatable complications early.
- Discover new symptoms, such as stiff joints or high blood pressure, which might otherwise go unnoticed.
- Keep your family up to date on new research and advances in Myhre syndrome care.
- Maintain an active relationship with our expert care team.
Our specialists
617-726-1561
Contact the Myhre Syndrome Program
617-726-1561
International Patient Services
Contact information for international patients