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What is Cleidocranial Dysplasia Overview about?

Cleidocranial dysplasia is a skeletal dysplasia characterized by abnormal bone development in the skull and collarbone. It is caused by mutations in the RUNX2 gene which regulates bone formation. Key features include a soft spot on the head from open fontanelles, missing or short collarbones, extra teeth, and abnormal dental development. While there is no cure, treatments can address specific symptoms through surgery, dental work, and physical therapy.

Author

Noor-E-Khadiza Shama

Language

EN