biostudies-literatureUnknown17(1)Yang DD<h4>Background</h4>Myhre syndrome (MS) is a rare genetic disease characterized by skeletal disorders, facial features and joint limitation, caused by a gain of function mutation in SMAD4 gene. The natural history of MS remains incompletely understood.<h4>Methods</h4>We recruited in a longitudinal retrospective study patients with molecular confirmed MS from the French reference center for rare skeletal dysplasia. We described natural history by chaining data from medical reports, clinical data warehouse, medical imaging and photographies.<h4>Results</h4>We included 12 patients. The median age was 22 years old (y/o). Intrauterine and postnatal growth retardation were consistently reported. In preschool age, neurodevelopment disorders were reported in 80% of children. Specifics facial and skOrphanet journal of rare diseases304https://www.ebi.ac.uk/biostudies/studies/S-EPMC9338657biostudies-literatureNatural history of Myhre syndrome.PMC9338657Rondeau SCormier-Daire VGarcelon NAngoulvant FBoddaert NMichot CYang DDRio MBonnet DThierry BGuey SYacoub WHerve DfalseNatural history of Myhre syndrome.<h4>Background</h4>Myhre syndrome (MS) is a rare genetic disease characterized by skeletal disorders, facial features and joint limitation, caused by a gain of function mutation in SMAD4 gene. The natural history of MS remains incompletely understood.<h4>Methods</h4>We recruited in a longitudinal retrospective study patients with molecular confirmed MS from the French reference center for rare skeletal dysplasia. We described natural history by chaining data from medical reports, clinical data warehouse, medical imaging and photographies.<h4>Results</h4>We included 12 patients. The median age was 22 years old (y/o). Intrauterine and postnatal growth retardation were consistently reported. In preschool age, neurodevelopment disorders were reported in 80% of children. Specifics facial and sk2022-01-01T00:00:00Z2022 Jul2025-05-29T16:11:13.4Z2025-04-22T16:39:09.759ZS-EPMC93386573590785510.1186/s13023-022-02447-x