craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia is a rare genetic disorder characterized by abnormal bone growth in the skull and facial bones. This condition leads to thickening of the bones, which can cause various complications, including pressure on the brain and facial deformities. It is caused by mutations in specific genes that affect bone development.
The symptoms of craniodiaphyseal dysplasia may include a prominent forehead, facial asymmetry, and hearing loss. Diagnosis typically involves imaging studies like X-rays or CT scans to assess bone structure. Treatment focuses on managing symptoms and may require surgical intervention to relieve pressure on the brain or improve appearance.