Myhre Syndrome Clinic
Yawkey Center for Outpatient Care
55 Fruit Street Suite 6C
Boston, MA 02114
Mass General Hospital Myhre Syndrome Clinic
175 Cambridge St.
Boston, MA 02114
Gifts from individuals help to support the hospital's three-part mission of innovative research and education in addition to patient care that is second to none.
Secure, convenient online access to your child's health information whenever you need it.
Explore This Treatment Program
The Myhre Syndrome Clinic provides compassionate care with an expert multidisciplinary team. As a subspecialty program, we do not offer routine primary care. However, 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.
- Medical Genetics and Genetic Counseling
- Otolaryngology (Aerodigestive/Airway Program)
- Neuropsychology (Psychologic Assessment Center)
- General Pediatrics, Adolescent Medicine, Internal Medicine
- Social Services
- Family Advocate (Parents of Children with Myhre Syndrome)
- Radiology, especially Cardiovascular Imaging
- Pulmonology – Adult and Pediatric
- Adult Congenital Heart Disease – Adult Cardiology
- Neurosurgery - Pediatric only
We understand the challenges that 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
To request an appointment in this clinic, please call the Medical Genetics Patient Service Coordinator (617-643-3133 or 617-726-1561). Dr. Lin will personally coordinate the visit which will occur over 2-4 days depending on the travel and medical needs of each person (and their family). She will provide you with handouts.
You will be asked to contact Mass General registration to obtain a medical record number (866-211-6588).
You will need to enroll into the Patient Gateway.
What Will Happen at the First Visit? Which Doctors Will I See?
We review 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 will meet with the “core providers” from genetics, cardiology, pulmonology and physical therapy. Most people see other specialists depending on their needs. Diagnostic testing will be planned, too.
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. We cannot evaluate you until you complete the Pre-Clinic Questionnaire that the genetics office will send.
If you, your son or daughter has received medical care from a health care provider outside Mass General, you will complete a medical release form to request that medical records be sent to us in advance of your visit. In general, we would like to see notes of the earliest, most recent, and a few interval visits. Patients who are followed at hospitals which also use the Epic Electronic Medical Record give MGH providers the ability to view their chart through “Care Everywhere.” Dr. Lin will provide you with a consent form.
Health Care Professionals
Please contact Dr. Lin for relevant literature.
Patients and Families
General Reviews about Myhre syndrome available on the internet include:
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.
Myhre syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/myhre-syndrome
We support the Myhre Syndrome Foundation as our partners to care for people, support their families, and conduct research to find treatments. People are encouraged to visit their website https://www.myhresyndrome.org/
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.
Meet the Team
With joint leadership between Medical Genetics and Pediatric Cardiology, we have assembled a multidisciplinary team of medical, radiology and psychosocial support.
Co-Directors: Angela E. Lin, MD, Medical Genetics and Mark E. Lindsay, MD, PhD, Pediatric Cardiology