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C1ROD is a recently proposed disorder characterized by predominant EDS symptoms of joint and skin laxity and mild OI symptoms of bone fragility and blue sclera. Patients with C1ROD do not carry specific variants for COL1\u2010related EDS, including classical, vascular, cardiac\u2010valvular, and arthrochalasia types. We describe clinical and molecular findings of 23 Japanese patients with pathogenic or likely pathogenic variants of <jats:italic>COL1A1<\/jats:italic> or <jats:italic>COL1A2<\/jats:italic>, who had either OI\u2010like or EDS\u2010like phenotypes. The final diagnoses were OI in 17 patients, classical EDS in one, and C1ROD in five. The OI group predominantly experienced recurrent bone fractures, and the EDS group primarily showed joint hypermobility and skin hyperextensibility, though various clinical and molecular overlaps between OI, <jats:italic>COL1<\/jats:italic>\u2010related EDS, and C1ROD as well as intrafamilial phenotypic variabilities were present. Notably, life\u2010threatening vascular complications (vascular dissections, arterial aneurysms, subarachnoidal hemorrhages) occurred in seven patients (41% of those aged &gt;20\u2009years) with OI or C1ROD. Careful lifelong surveillance and intervention regarding bone and vascular fragility could be required.<\/jats:p>","DOI":"10.1002\/ajmg.a.62887","type":"journal-article","created":{"date-parts":[[2022,7,13]],"date-time":"2022-07-13T08:20:47Z","timestamp":1657700447000},"page":"2560-2575","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Clinical and molecular features of patients with <scp><i>COL1<\/i><\/scp>\u2010related disorders: Implications for the wider spectrum and the risk of vascular complications"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1654-9463","authenticated-orcid":false,"given":"Ryojun","family":"Takeda","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine  Matsumoto Japan"},{"name":"Division of Medical Genetics Nagano Children's Hospital  Azumino Japan"},{"name":"Life Science Research Center 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