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MGHfC Clinical Experts Conduct International Myhre Syndrome Conference




Eavesdropping on expertise from MassGeneral Hospital for Children (MGHfC), the Myhre Syndrome Foundation (MSF) kicked off its inaugural conference on July 10-11, 2021. The two-day virtual meeting included a Family Conference attended by the Scientific Symposium. Together, they focused on patient education efforts, describing the effects of the rare disease on a person’s body, and recommendations for symptom management and the latest clinical findings.

Myhre Syndrome is a rare disease defined by the Food and Drug Administration as a condition that affects less than 20,000 people in the United States. The exact number of people with Myhre syndrome in the US is not known, but an approximate estimate is about 250, 42 of whom were evaluated at the MGHfC Myhre Syndrome Clinic. Genetic disorder is characterized by short stature, varying degrees of intellectual, social, and learning disabilities, and problems with the heart, airways, or skin. People with Myhre syndrome also have characteristic facial features, such as small eyes, pointed nose, small mouth or pointed chin. But not all people have all the features and there is a wide range of inclusions.

The meeting included individuals with Myhre syndrome and their families and medical professionals in 19 countries. Angela Lin, MD, co-director of The general of the mass The Myhre Syndrome Clinic and a co-director of the Turner Syndrome Program presented the key training session, “Your child (or you) has Myhre Syndrome – Now what? Learning about this rare syndrome and setting up a personal care team ”and provided a great research summary for attendees.

Presentations by MGH experts covered all the unique needs of the patient, from social, mental and physical health. As one of the few specialized clinics in the world, the Mass General Myhre Syndrome Clinic, led by Lin and co-director Mark Lindsay, MD, PhD, of the Pediatric Cardiology Program, is home to major clinical and research advances.

Experts from various departments at MGHfC also presented on ongoing patient care and research. Outstanding faculty speakers included T. Bernard Kinane, MD, Head of Pulmonary Pediatric Medicine and Director of the Pediatric Sleep Program and Pediatric Cardiopulmonary Exercise Laboratory, Sylvia Fogel, MD, a psychiatrist at the Lurie Center for Autism, Jessica R , DPT, DPT,, OCS, CLT and Brigette Jason, PT, DPT from the Department of Physical Therapy and Michael Cohen, MD, director of the Multidisciplinary Pediatric Clinic for Hearing Loss in Massive eye and ear. In her conversations, Dr. Lin thanked all the staff of the Myhre Syndrome Program, including the new Clinical Research Assistant, Eleanor Scimone, who was not present at the conference but is vital to the team of many specialties.

The virtual conference ended with a renewed sense of partnership between patients and providers, expanded international reach, updating of clinical guidelines, and hope for another conference.




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