Overview Acampomelic campomelic dysplasia (ACD) is a subtler form of campomelic dysplasia characterized by skeletal anomalies without the classical bowed long bones. It results from haploinsufficiency or regulatory disruptions of the SOX9 gene, a pivotal regulator of chondrogenesis and sex development. In some cases, upstream deletions affecting the regulatory landscape of SOX9 lead to atypical…