Explore This Treatment Program

Overview

The Myhre Syndrome Clinic provides compassionate care with an expert multidisciplinary team. As a subspecialty program, we do not offer routine primary care, but instead we provide a comprehensive evaluation, specific to the needs of people with Myhre syndrome. Our doctors work with the patient’s primary care provider to identify specialty needs and to coordinate care and improve outcomes.

Our Services

Mission Statement

We understand what people and families living with a rare disease experience each day. As a collaborative, multidisciplinary team serving people with Myhre syndrome of all ages and their families, we provide clinical care, education and support. We are passionate about the importance of research to answer the questions that families ask us.

Before Your Appointment

Request an appointment: To request an appointment in this clinic, please call the Medical Genetics Patient Service Coordinator (617-643-3133 or 617-726-1561).

You will be asked to contact Mass General registration to obtain a medical record number (866-211-6588).

What Will Happen at the First Visit? Which Doctors Will I See?

We will start by reviewing your past medical care, especially genetic and cardiac testing, and current care plan. We address the questions that you think are most important.

Each visit is personalized to meet your needs. All patients are seen on the first visit by Dr. Lin (Genetics). Most people see other specialists. Testing can be planned, too.

Most patients also meet with Dr. Mark Lindsay in Pediatric Cardiology (617-724-4363).

How Should I Prepare for the Visit?

Before we can meet you, we must have some of your past medical records, including any important consultations, tests, and procedures.

If your son or daughter has received medical care from a health care provider outside Mass General, please use the release form below to request that medical records be sent to us in advance of your visit so that we can review them. In general, we would like to see the earliest, most recent, and something in between.

Medical Records Release

Health Care Professionals

Our doctors work with the patient’s primary care provider to identify specialty needs and to coordinate care and improve outcomes.

General Review about Myhre syndrome

GeneReviews Myhre Syndrome (Starr LJ, Lindor NM, Lin AE. Myhre Syndrome. 2017 Apr 13. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.

Patient Stories

Finding a medical home away from home with a rare disease diagnosis: Anna's story - 8/11/2017, Mass General

At 16, Anna Young was diagnosed with Myhre Syndrome, a very rare genetic condition. Since coming to the Myhre Syndrome Clinic at MGHfC, she has found her place in the world and learned the skills to thrive as a young adult.

Patient ambassador is a guiding light for the Myhre Syndrome Clinic - 8/11/2017, Mass General

April Lanord's son, Alec Bruneau, was considered a medical mystery until he received a diagnosis of Myhre Syndrome, a very rare genetic condition, during childhood. Since coming to the Myhre Syndrome Clinic, Alec has found a new sense of confidence and comfort in who he is. April was also inspired to become an ambassador for the clinic, helping other families get oriented to Boston and MGHfC.