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

Q78: Other osteochondrodysplasias

Osteochondrodysplasias are a diverse group of bone and cartilage disorders that are usually present from birth. Although the specific causes vary, many of these conditions are due to genetic mutations that affect the normal development, formation, or growth of bones and cartilage. These anomalies often result in abnormal bone development, which can lead to various symptoms such as short stature, abnormal curvature of the spine, and deformities in the hands, feet, and skull. The severity and progression of these disorders can also vary greatly. Some may be relatively mild, causing few if any symptoms, while others can be severe and could lead to life-threatening complications. The diagnosis of these conditions often involves a combination of physical examination findings, family history, and diagnostic imaging studies. Certain types of osteochondrodysplasias can be confirmed through genetic testing as well. It's important to note that each specific type of osteochondrodysplasia may present differently and require specialized management and care.