Skeletal dysplasias

Skeletal dysplasias are a diverse group of genetic disorders that affect the development and growth of bones and cartilage. They often result in abnormal bone shape, size, and structure, leading to features such as short stature, bowed limbs, or unusual bone shapes. While some types are mild, others can cause significant health issues, including breathing problems or joint difficulties. These conditions are usually inherited or occur due to genetic mutations, and diagnosis often involves medical imaging, genetic testing, and clinical evaluation. Management varies based on the specific type and severity, focusing on optimizing function and quality of life.