Purpose of review: To summarize the recent advances in our understanding of the majors genes involved in chondrogenesis and their molecular mechanisms.
Recent findings: Disorders of the growth plate and the resulting skeletal dysplasias are a consequence of defects in genes involved in various stages of the chondrocyte proliferation and differentiation process. Recent identification of disease genes has provided insights into the pathophysiology of many skeletal dysplasias.
Summary: This knowledge enhances our understanding of the physiology and pathophysiology of the growth plate. Many skeletal dysplasias can now be characterized at the molecular level, allowing clinicians to provide accurate molecular diagnoses and counseling. Further research in this area will likely provide insights into possible therapeutic options for disorders of the growth plate.