skeletal dysplasia

Skeletal dysplasia refers to a group of genetic disorders that affect the development and growth of bones and cartilage. These conditions can lead to features such as abnormal body proportions, short stature, and sometimes joint or breathing difficulties. The severity varies widely, with some individuals experiencing mild differences and others significant health challenges. Skeletal dysplasias result from mutations that disrupt normal bone formation, and diagnosis often involves genetic testing and imaging. While they are lifelong conditions, many individuals lead active lives with appropriate medical management.