Ehlers-Danlos syndromes (EDS) are a heterogeneous group of hereditary connective tissue disorders (HTCD) caused by mutations in genes involved in the structure and/or biosynthesis of collagens and other extracellular matrix proteins. 1 The 2017 classification consists of 13 types of EDS based on clinical manifestations and genetic abnormalities in 19 different genes. 2 Main common characteristics are generalized joint hypermobility (GJH), skin hyperextensibility, and tissue fragility. Scoliosis is another common manifestation in EDS patients. 1,3,4 Especially,

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We reported a novel COL1A1 variant, p.(Arg312Leu), at a residue previously involved in classical and vascular EDS.The three patients affected, belonging to the same family, presented manifestations consistent with the hypermobile EDS and no major cardiovascular complications. We ultimately classified them as COL1-related overlap disorder.