Skeletal dysplasia

Skeletal dysplasia is a complex group of bone and cartilage disorders that affect the development and growth of the skeletal system. These disorders are characterized by abnormalities in the shape and size of the skeleton, leading to a variety of physical complications and health issues.

Classification[edit | edit source]

Skeletal dysplasias are classified based on the part of the skeleton they affect, their radiographic features, and their genetic causes. The International Skeletal Dysplasia Society has identified more than 450 distinct types of skeletal dysplasias.

Causes[edit | edit source]

Most skeletal dysplasias are caused by genetic mutations that affect the development and growth of bone and cartilage. These mutations can be inherited from parents or occur spontaneously.

Symptoms[edit | edit source]

The symptoms of skeletal dysplasia vary widely depending on the specific type of disorder. Common symptoms include short stature, abnormal bone shape, joint problems, and physical deformities.

Diagnosis[edit | edit source]

Diagnosis of skeletal dysplasia often involves a combination of physical examination, medical history, and radiographic imaging. Genetic testing can also be used to confirm a diagnosis and identify the specific type of skeletal dysplasia.

Treatment[edit | edit source]

Treatment for skeletal dysplasia is focused on managing symptoms and improving quality of life. This may include physical therapy, surgery, and medication to manage pain and other complications.

See also[edit | edit source]

Skeletal dysplasia Resources
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