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It is caused by pathogenic variants of <jats:italic>MAP3K7<\/jats:italic>, which encodes transforming growth factor\u2010\u03b2 activated kinase 1 (TAK1), a member of the mitogen\u2010activated protein kinase kinase kinase family (MAPKKK). Only eight individuals with molecularly confirmed CSCF have been reported. Here, we report the first Asian CSCF male with a novel missense variant of <jats:italic>MAP3K7<\/jats:italic> (NM_145331.3: c.467A\u2009&gt;\u2009T: p.Asp156Val). We compared and reviewed the clinical and molecular findings in previously reported CSCF cases and the present case to better delineate the phenotype of CSCF. In addition to the main symptoms of CSCF, the present case had a mixed phenotype of Ehlers\u2013Danlos syndrome (EDS) and Noonan syndrome. Taking this case together with the previously reported cases, CSCF may overlap with the phenotypes of EDS and Noonan syndrome, suggesting that this finding may contribute to diagnosing CSCF. Another major achievement of this research is to successfully capture the process of carpal fusion in a CSCF case radiographically. This work may expand the phenotypic spectrum of CSCF.<\/jats:p>","DOI":"10.1002\/ajmg.a.62516","type":"journal-article","created":{"date-parts":[[2021,9,25]],"date-time":"2021-09-25T00:21:16Z","timestamp":1632529276000},"page":"350-356","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in <scp><i>MAP3K7<\/i><\/scp>"],"prefix":"10.1002","volume":"188","author":[{"given":"Mari","family":"Minatogawa","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine  Matsumoto Japan"},{"name":"Center for Medical Genetics Shinshu University Hospital  Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0987-310X","authenticated-orcid":false,"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"},{"name":"Department of Human Genetics Research Institute, National Center for Global Health and Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinori","family":"Tsukahara","sequence":"additional","affiliation":[{"name":"Department of Radiology Shinshu University School of Medicine  Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuko","family":"Tanabe","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kansai Medical University  Hirakata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takamichi","family":"Uchiyama","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kansai Medical University  Hirakata Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8344-7507","authenticated-orcid":false,"given":"Tomoki","family":"Kosho","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine  Matsumoto Japan"},{"name":"Center for Medical Genetics Shinshu University Hospital  Matsumoto Japan"},{"name":"Division of Clinical Sequencing Shinshu University School of Medicine  Matsumoto Japan"},{"name":"Research Center for Supports to Advanced 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