Q65-Q79: Congenital malformations and deformations of the musculoskeletal system

Q77: Osteochondrodysplasia with defects of growth of tubular bones and spine

Osteochondrodysplasias are a group of conditions that affect the growth and development of the spine and the long bones in the arms and legs. They are present from birth and are usually caused by genetic mutations, which can be inherited from one or both parents. Common symptoms include short stature, skeletal abnormalities such as bowed legs or a curved spine, and joint pain or stiffness. As a person with osteochondrodysplasia ages, the condition may progress and symptoms may become more pronounced. These abnormalities can affect mobility and interfere with the normal function of the body. However, the severity and exact presentation of the condition can vary widely from person to person. Overall, osteochondrodysplasias influence the skeletal system, but depending on the specific condition, may also impact other body systems.