Abstract
Spondylocostal dysostosis (SCDO), also referred to as spondylothoracic dysostosis, is a rare disorder characterized by multiple segmentation defects of the vertebrae, a short trunk and neck, and rib abnormalities, including malalignment with missing or fused ribs. Pathogenic variants in six genes (DLL3, MESP2, LFNG, HES7, TBX6, and RIPPLY2) have been identified to cause SCDO, mostly through autosomal recessive inheritance, although TBX6 has been associated with dominant inheritance as well. All six genes encode key components of the Notch1 receptor signaling pathway, which is essential for normal somitogenesis during development.
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