Besides these features, typical of chordoma, the Chor-IN-1 genome harbors peculiar chromosomal alterations in regions containing bone dysmorphism-associated genes, including DACH1, a gene involved in regulation of gene expression and cell fate determination during development, reported to downregulate EGFR and cyclin D1 and associated with osteosarcoma development27; LIG4, whose mutations are responsible for LIG4 syndrome, a disease characterized by dysmorphic features and microcephaly28 and WWP1, an E3 ubiquitin ligase involved in the regulation of osteoblast functions29. The gene discussed is EGFR; the disease is LIG4 syndrome.