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The <jats:italic>FGFR1<\/jats:italic> gene encodes a receptor vital for osteogenesis in the axial and craniofacial skeleton. Key OGD features include craniosynostosis, craniofacial dysmorphism, impacted teeth, rhizomelic shortening, and nonossifying fibromas. Patients may have hypophosphatemia due to high FGF23 levels. We report two OGD patients with the c.1141T &gt; C <jats:italic>FGFR1<\/jats:italic> variant [p.(Cys381Arg)], initially diagnosed with Pfeiffer syndrome. Both showed classic symptoms as well as signs not previously reported, including elevated frontal temperature and overlapping toes. This report emphasizes distinguishing OGD from similar disorders and expanding the clinical phenotype.<\/jats:p>","DOI":"10.1002\/ajmg.a.64092","type":"journal-article","created":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T08:04:43Z","timestamp":1745309083000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["New Phenotypic Features in <i>FGFR1<\/i>\u2010Related Osteoglophonic Dysplasia"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7309-7243","authenticated-orcid":false,"given":"Amna A.","family":"Othman","sequence":"first","affiliation":[{"name":"National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly E.","family":"Babcock","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"},{"name":"Unit on Skeletal Genomics, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corey S.","family":"Gill","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery University of Texas Southwestern Medical Center and Scottish Rite for Children  Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie L.","family":"Fraser","sequence":"additional","affiliation":[{"name":"Prenatal Pediatrics Institute Children's National Hospital  Washington DC USA"},{"name":"Center for Genetic Medicine Research Children's National Hospital  Washington DC USA"},{"name":"Division of Genetics and Metabolism Children's National Hospital  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debra S.","family":"Regier","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism Children's National Hospital  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajdeep","family":"Kaur","sequence":"additional","affiliation":[{"name":"Unit on Skeletal Genomics, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kara L.","family":"Simpson","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism Children's National Hospital  Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos R.","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Unit on Skeletal Genomics, Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,4,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.9.572"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/bf01644343"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2023.101844"},{"key":"e_1_2_9_5_1","first-page":"181","volume-title":"An Atlas of General Affections of the Skeleton","author":"Fairbank T.","year":"1951"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31106"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/ruq.0000000000000238"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.50448"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.124.2.271"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.6.436"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr\u20102021\u2010245415"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1055\/s\u20100037\u20101602816"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.103729"},{"key":"e_1_2_9_14_1","volume-title":"GeneReviews()","author":"Othman A. 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