diagnosis of Klippel–Feil syndrome

Klippel–Feil syndrome is diagnosed through a combination of medical history, physical examination, and imaging tests. Doctors look for a characteristic short neck, limited neck movement, and a low hairline at the back of the head. Imaging studies such as X-rays, CT scans, or MRIs are used to identify abnormal fusion of cervical (neck) vertebrae. These tests help confirm the diagnosis by showing the specific vertebral fusions that define the condition and assess any associated abnormalities in the spine or other parts of the body.