cleidocranial dysostosis
Cleidocranial dysostosis is a rare genetic disorder that affects the development of bones and teeth. It is caused by mutations in the RUNX2 gene, which plays a crucial role in bone formation. Individuals with this condition often have underdeveloped or absent collarbones, leading to a wide range of shoulder mobility. Additionally, they may experience delayed closure of the skull bones, resulting in an enlarged head.
People with cleidocranial dysostosis may also have dental issues, such as missing teeth or extra teeth. Other features can include short stature and skeletal abnormalities. Diagnosis is typically made through clinical evaluation and imaging studies, and management focuses on addressing the specific symptoms.