Klippel-Feil Syndrome: Clinical Presentation and Management.

Abstract

Klippel-Feil syndrome (KFS) is a rare multisystem constellation of findings with congenital cervical fusion as the hallmark. The etiology is not fully understood. Recent studies have indicated that KFS is more prevalent than previously described. Hypermobility in the nonfused segments may lead to adjacent segment disease and potential disc herniation and myelopathy after minor trauma. Most patients with KFS are asymptomatic and can be managed nonoperatively. Surgical treatment is reserved for patients presenting with pain refractory to medical management, instability, myelopathy or radiculopathy, or severe adjacent segment disease. Patients with craniocervical abnormalities and upper cervical instability should avoid contact sports as they are at increased risk for spinal cord injury after minor trauma.