Abstract

Osteochondrodysplasias (OCDs) refer to a group of genetic disorders characterized by abnormal growth and development of bones and joints. OCDs affect the skeleton’s cartilage and bone tissues, impeding proper growth and contributing to bone abnormalities. These disorders can range from mild to severe, affecting both humans and animals. OCDs, also known as skeletal dysplasias or chondrodysplasias, are caused by genetic mutations that alter bone and cartilage development. The most common symptoms of OCDs are short stature, disproportionate body parts, and joint deformities. These dysplasias can involve one or several bones, which mean that an individual with OCD can have normal bone growth in some parts of their body but abnormal growth in others. This can lead to a range of complications, including joint pain, arthritis, and spinal cord compression. Additionally, some forms of OCD can cause hearing loss, vision problems, and heart defects. There are over 350 known forms of OCDs, which can be classified based on the area of the body they affect or the type of bone and cartilage defect present. The classification by affected area groups OCDs into the following categories: