Deleterious mutations within the coding region of SOX9 account for a majority of cases; however, chromosomal breakages or translocations mark a subset of cases, presumably by altering expression of SOX9. We have found that Stat3 loss-of-function mutant mice exhibit features consistent with campomelic dysplasia including dwarfism, bent limbs, cleft palate, laryngotracheomalacia and abnormal growth plate hypertrophic chondrocytes. Here, SOX9 is linked to campomelic dysplasia.