biostudies-literatureUnknown57(1)Jacinto J<h4>Background</h4>Genetic skeletal disorders are a heterogeneous group of syndromic or non-syndromic diseases characterized by abnormal bone, joint or cartilage development. These disorders generally occur sporadically in ruminants. Although a genetic etiology is often suspected, only a limited number of causal variants have been identified and no comprehensive genetic analyses of a cohort of bovine and ovine skeletal developmental defects have been published. The aims of our study were (1) to propose a nosology of genetic skeletal disorders in cattle and sheep and (2) to contribute to the nosology with a number of novel genomically characterized cases.<h4>Results</h4>Based on a literature review, the proposed nosology of skeletal disorders in cattle and sheep with a confirmed molecular cGenetics, selection, evolution : GSE51https://www.ebi.ac.uk/biostudies/studies/S-EPMC12465177biostudies-literatureExploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.PMC12465177Bolcato MKraft DCEHafliger IMSickinger MLetko AJones AOtter AFreick MStuder ELindgren CMGentile AStrugnell BFloyd TSoto SScholes SLuhken GJacinto JStaric JCarty HCollins RWeber JBenazzi CDiana ATammen IDrogemuller CO'Rourke BAAgerholm JSRichey MFuller HfalseExploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.<h4>Background</h4>Genetic skeletal disorders are a heterogeneous group of syndromic or non-syndromic diseases characterized by abnormal bone, joint or cartilage development. These disorders generally occur sporadically in ruminants. Although a genetic etiology is often suspected, only a limited number of causal variants have been identified and no comprehensive genetic analyses of a cohort of bovine and ovine skeletal developmental defects have been published. The aims of our study were (1) to propose a nosology of genetic skeletal disorders in cattle and sheep and (2) to contribute to the nosology with a number of novel genomically characterized cases.<h4>Results</h4>Based on a literature review, the proposed nosology of skeletal disorders in cattle and sheep with a confirmed molecular c2025-01-01T00:00:00Z2025 Sep2026-06-03T21:24:18.597Z2026-05-01T03:10:50.107ZS-EPMC124651774099932310.1186/s12711-025-01002-z