cleidocranial dysplasia
Cleidocranial dysplasia 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, allowing their shoulders to touch each other. They may also experience delayed closure of the skull bones, leading to an enlarged head.
People with cleidocranial dysplasia may 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 specific symptoms.