Campomelic Dysplasia is associated with which gene?

Campomelic Dysplasia is primarily caused by mutations in the SOX9 gene. This condition is characterized by skeletal malformations, especially bowing of the long bones, and can also include other anomalies such as genital abnormalities and hearing loss. SOX9 plays a crucial role in chondrogenesis (the formation of cartilage) and the development of male sexual differentiation, hence its significant involvement in these developmental anomalies related to Campomelic Dysplasia.

The other genes listed play important roles in various biological processes or other conditions but are not directly associated with Campomelic Dysplasia. For instance, SOX10 is implicated in conditions like Waardenburg syndrome and Hirschsprung disease. FGFR3 is related to skeletal dysplasias such as achondroplasia, and SHH is vital in signaling pathways crucial for development but does not specifically relate to Campomelic Dysplasia. Understanding the specific roles of these genes within their respective conditions helps clarify the biological mechanisms underlying genetic disorders.