CHST3-Related Skeletal Dysplasia

CHST3-Related Skeletal Dysplasia

CHST3-related skeletal dysplasia is a genetic disorder affecting cartilage and bone development. It results from mutations in the CHST3 gene, leading to skeletal abnormalities, joint pain, and growth deficiencies. Early diagnosis through genetic testing is crucial for management and treatment, which may include physical therapy and surgical interventions.