Myhre Syndrome Clinic

Overview

The Myhre Syndrome Clinic provides compassionate care with an expert multidisciplinary team. As a subspecialty program, we do not offer routine primary care. As needed, we can refer to age-appropriate providers. 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.

Our Services

• Medical Genetics and Genetic Counseling
• Endocrinology – Pediatric and Adult
• Cardiology – Pediatric and Adult, Adult Congenital Heart Disease
• Otolaryngology – Pediatric (Aerodigestive/Airway Program) and Adult
• Audiology – Pediatric and Adult
• Ophthalmology – Pediatric and Adult
• Gastroenterology – Pediatric and Adult
• Gynecology – Pediatric and Adult
• Dermatology – Pediatric and Adult
• Neuropsychology (Psychology Assessment Center) – Pediatric and Adult
• Neurology – Pediatric and Adult
• Psychiatry – Pediatric and Adult
• Social Work – Pediatric and Adult
• Orthopaedics, Podiatry – Pediatric and Adult
• Radiology, especially Cardiovascular Imaging and Neurological Imaging – Pediatric and Adult
• Pulmonology – Pediatric and Adult
• Neurosurgery – Pediatric and Adult

Mission Statement

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 both clinical and basic science 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 (617-726-1561) who will refer your call to Dr Lin. She 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 in Patient Gateway.

• Both the patient and parent/guardian will need a medical record number. Please contact New Patient Registration (866-211-6588).
• For younger children (less than 13 years), the parent/guardian will be the proxy.
• For children 13 years and older or patients who are unable to communicate using a secure email portal, parents/guardians will need to link their accounts in order to receive messages.

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

We review your local team of providers, past medical care, especially genetic and cardiac testing, and current medical and educational 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, physical therapy, and ENT. 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 need to review some of your past medical records and the most recent visit. These include primary care visit, specialty consultations, tests, and procedures.
• We cannot evaluate you until you complete the Pre-Clinic Questionnaire that Dr. Lin 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 system will allow MGH providers the ability to view their chart through “Care Everywhere.”

Health Care Professionals

Please contact Dr. Lin who will share relevant literature or discuss your patient.

Patients and Families

General Reviews about Myhre syndrome available on the internet include:

• The 2022 GeneReviews Myhre Syndrome (Lin AE, Brunetti-Pierri N, Lindsay ME, et al. Myhre Syndrome. 2017 Apr 13 [Updated 2022 Nov 24]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.
• National Organization for Rare Disorders (NORD): Myhre Syndrome

We support the Myhre Syndrome Foundation as our partners to care for people, support their families, and conduct research to find treatments. Visit the Myhre Syndrome Foundation website.

Patient Resources

View the full collection of patient resources from the Myhre Syndrome Clinic at MGfC and Mass General.

Publications

PDFs are available upon request.

• Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
• Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome

Patient Stories

Finding Help for Ivy
Deleena Therien has worried about her 2-year-old daughter, Ivy Nguyen, since her birth. From her first days, Ivy had little interest in eating and weighed much less than her twin brother, Oliver. As the siblings grew, Ivy wasn’t walking or talking like Oliver, either. And instead of hugging her parents, she pushed them away.

Finding a medical home away from home with a rare disease diagnosis: Anna's story
At 16, Anna Young was diagnosed with Myhre Syndrome, a very rare genetic condition. Since coming to the Myhre Syndrome Clinic at MGfC, 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
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 MGfC.

Ty's story: Fourth grader flourishes with a team approach to rare genetic condition
For the first few years of Ty’s life, his parents, Destiny and Andrew, from Chicago, weren’t sure why their son wasn’t talking. In 2012, at age 2, Ty was diagnosed with autism spectrum disorder (ASD). Two years later, Ty was diagnosed with Myhre syndrome. Ty is now in fourth grade and attends regular classes with an aide and his service dog, Splash.

Clinic News

Dr. Lin is Recognized as a Voice for Those with Rare Disease on Your Radio Doctor

Dr. Lin discusses living with a rare syndrome such as Myhre syndrome on the podcast Your Radio Doctor.

Dr. Angela Lin Discusses Myhre Syndrome on Life With the Spectrum
Dr. Angela Lin joined Life With the Spectrum podcast host Gina Kavali to discuss Myhre syndrome.

MGfC specialists participate in the Myhre Family Conference
July 27-28, 2024: Tapping Dr. Lin's expertise from Mass General for Children (MGfC), the Myhre Syndrome Foundation celebrated their community at the annual family conference in Philadelphia. The two-day event was held at Children's Hospital of Philadelphia and several staff members participated in giving lectures.

Cardiovascular Research Center Retreat 2022
November 11, 2022: Members of the MGH Myhre syndrome research team attended the Cardiovascular Research Center Retreat on November 11, 2022. The poster represents bench research from the Lindsay Lab about the cardiovascular features of the Myhre syndrome mouse model compared to clinical research in humans.  It was presented by Joseph Lawton, BS, CRA, Eleanor R. Scimone, BS, CRC, and Christian Lino Cardenas, PharmD, under the direction of Dr. Mark Lindsay and Dr. Angela Lin. Funding support included a grant from the Myhre Syndrome Foundation.

MGfC Clinical Experts Lead International Myhre Syndrome Conference
July 10-11, 2021: Tapping expertise from Mass General for Children (MGfC), the Myhre Syndrome Foundation launched its inaugural conference on July 10-11, 2021. The two-day virtual meeting included a Family Conference followed by the Scientific Symposium.

Mask Up

Myhre Syndrome Clinic co-director Angela Lin created a social-media post for the American College of Medical Genetics and Genomics Facebook, Instragram, and Twitter accounts, to promote mask-wearing! “The people and families I follow with Myhre syndrome are dispersed around the country, and outside the US. To promote mask usage without being preachy, I created this montage to show them my happy face (well, eyes, at least). The parents are passionate about keeping their children safe, and encouraging others to do the same.” How do YOU #MaskUp? Show us your mask! Post a photo and include #MaskUp and #MedicalGeneticsAwareness - and be sure to tag @theacmg. Got a creative or genetics-related mask? We’d love to see it! American Medical Association (AMA)”

Meet the Team

With joint leadership between Medical Genetics and Pediatric Cardiology, we have assembled a multidisciplinary team of medical, radiology and psychosocial support.