Diastrophic dysplasia is a rare genetic disorder that primarily affects bone and cartilage development. It is caused by mutations in the SLC26A2 gene, which plays a crucial role in the formation of cartilage. Individuals with this condition often experience short stature, joint deformities, and spinal issues due to abnormal bone growth. People with diastrophic dysplasia may also have distinctive features such as clubfoot and a hitchhiker's thumb, where the thumb can bend backward. Diagnosis typically occurs through physical examination and imaging studies. While there is no cure, management focuses on addressing symptoms and improving mobility through physical therapy and orthopedic interventions.