Journal of Yeungnam Medical Science

Case report

GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report: Joonhwan Lee, Byungju Ryu, Yunhee Kim, Eunyoung Lee; J Yeungnam Med Sci. 2025;42:15. Published online December 11, 2024; DOI: https://doi.org/10.12701/jyms.2024.01137

Abstract PDF: Spondylocarpotarsal synostosis syndrome (SCTS) is a rare genetic disorder characterized by vertebral fusion, short stature, and skeletal anomalies. SCTS is primarily associated with mutations in filamin B. However, in this report, we present a unique case of SCTS in a 28-year-old male who complained of neck and shoulder pain persisting for 1 year. His clinical presentation included radioulnar synostosis, cervical spine anomalies (scoliosis and agenesis of the posterior arch of C1), and a history of polydactyly. Genetic analysis revealed mutations in GMNN and DLL1. To the best of our knowledge, this is the first report on the association of SCTS with these genes.

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