How is Klippel-Feil Syndrome diagnosed?

Klippel-Feil Syndrome (KFS) is typically diagnosed when X-rays or other imaging techniques show fusion of cervical vertebrae. X-rays of the entire spine should be performed to detect other spinal abnormalities, and additional imaging studies may be needed to assess the extent of the abnormality.

KFS can be associated with a wide range of other abnormalities involving many parts of the body. Therefore, other initial exams are needed to detect additional physical abnormalities or underlying conditions. These include:
•examination of the chest to rule out involvement of the heart and lungs
•examination of the chest wall to detect possible rib anomalies
•MRI for spinal stenosis or neurological deficits
•ultrasound of the kidneys for renal abnormalities
•hearing evaluation due to high incidence of hearing loss
•various lab tests to assess organ function

Additional tests or consultations with specialists may be recommended depending on the features present in each person with KFS.

I was diagnosed at 13 years old by xrays.

Hat to diagnose but the joint junctions are often the primary cause.