This is a mechanism module, not a specific disease. Disorder entries reference individual nodes via conforms_to (e.g., "axial_segmentation_serial_homology#Vertebral and Costal Malsegmentation"). The biological motivation is serial homology: vertebrae and ribs are serially repeated somite derivatives built by one periodic segmentation mechanism, so a single clock/Notch lesion yields a multi-segment axial malformation bundle rather than an isolated defect. Conforming nodes should substitute the disorder-specific lesion at the trigger node (DLL3/SCDO1, MESP2/SCDO2, LFNG/SCDO3, HES7/SCDO4, TBX6) and specialize the affected vertebral/costal elements at the consequence node. Modules bind GO and CL terms only.
Segmentation Clock and Wavefront Dysfunction
trigger
The conserved initiating lesion disrupts the segmentation clock โ the oscillatory network of coupled Notch, Wnt, and FGF signaling in the presomitic mesoderm โ or the FGF/Wnt determination wavefront that converts the clock's temporal periodicity into spatial segment boundaries. In humans, the recurrent lesions are in Notch-pathway components (DLL3, MESP2, LFNG, HES7) and the mesoderm regulator TBX6; proper regulation of Notch signaling is an absolute requirement for correct patterning of the axial skeleton.
Downstream
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Disrupted Somite Boundary Formation
Vertebral and Costal Malsegmentation
consequence
Because the vertebrae and ribs are serially homologous somite derivatives built by one periodic mechanism, mis-segmentation produces a coordinated multi-segment malformation bundle rather than an isolated defect: multiple hemivertebrae, fused/block vertebrae, and rib fusions or malalignment along the axial skeleton, frequently causing congenital scoliosis and thoracic insufficiency.