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Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Myhre Syndrome Clinic (2016\u20132023) and by collaborating specialists have facilitated deep phenotyping, genotyping and natural history analysis. Of 47 patients (four previously reported), most (81%) patients returned to MGH at least once. For patients followed for at least 5\u2009years, symptom progression was observed in all. 55% were female and 9% were older than 18\u2009years at diagnosis. Pathogenic variants in <jats:italic>SMAD4<\/jats:italic> involved protein residues p.Ile500Val (49%), p.Ile500Thr (11%), p.Ile500Leu (2%), and p.Arg496Cys (38%). Individuals with the <jats:italic>SMAD4<\/jats:italic> variant p.Arg496Cys were less likely to have hearing loss, growth restriction, and aortic hypoplasia than the other variant groups. Those with the p.Ile500Thr variant had moderate\/severe aortic hypoplasia in three patients (60%), however, the small number (<jats:italic>n<\/jats:italic>\u2009=\u20095) prevented statistical comparison with the other variants. Two deaths reported in this cohort involved complex cardiovascular disease and airway stenosis, respectively. We provide a foundation for ongoing natural history studies and emphasize the need for evidence\u2010based guidelines in anticipation of disease\u2010specific therapies.<\/jats:p>","DOI":"10.1002\/ajmg.a.63638","type":"journal-article","created":{"date-parts":[[2024,5,23]],"date-time":"2024-05-23T10:38:52Z","timestamp":1716460732000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016\u20132023)"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1145-4572","authenticated-orcid":false,"given":"Angela E.","family":"Lin","sequence":"first","affiliation":[{"name":"Medical Genetics and Metabolism, Department of Pediatrics Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleanor R.","family":"Scimone","sequence":"additional","affiliation":[{"name":"Medical Genetics and Metabolism, Department of Pediatrics Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8026-6970","authenticated-orcid":false,"given":"Robyn P.","family":"Thom","sequence":"additional","affiliation":[{"name":"Lurie Center for Autism Mass General for Children  Boston Massachusetts USA"},{"name":"Department of Psychiatry Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duraisamy","family":"Balaguru","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology, Department of Pediatrics Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6927-258X","authenticated-orcid":false,"given":"T. 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