Klippel-Feil Syndrome Treatment & Management

Updated: Apr 20, 2021
  • Author: Thomas R Lewis, MD; Chief Editor: Jeffrey A Goldstein, MD  more...
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Approach Considerations

For the orthopedic surgeon, the most frequent indications for surgical treatment of Klippel-Feil syndrome (KFS; also referred to as cervical vertebral fusion syndrome) depend on the amount of deformity, its location, and its progression with time. Other indications include instability of the cervical spine and neurologic problems. These indications can occur with craniocervical junction anomalies and when two fused segments are separated by a normal segment.

Some patients present early in life with complex cervical and cervicothoracic deformity that is progressive and disfiguring. Some of these patients require cervical spine fusions to prevent progression.

Other patients may develop compensatory or associated congenital scoliosis, which also can be progressive over time and requires fusion to prevent progressive deformity. More than 50% of the patients in Hensinger's study had scoliosis. [27]  Treatment of the scoliosis with bracing or surgery was required in 18 of the 50 patients.

Using their own classification system, Samartzis et al reviewed 28 patients radiographically and clinically (mean age at presentation, 7.1 years; mean age of symptom onset in symptomatic patients, 11.9 years; mean follow-up, 8.5 years). [3]  Of the 28, 64% had no symptoms, two developed myelopathic symptoms (type II and type III), and two developed radiculopathic symptoms (type II and type III). Axial symptoms were more common in type I patients. The investigators recommended activity modification in high-risk patients.

The same authors reported on a patient who developed a symptomatic cervical disk herniation. [2]  The patient had occipitalization of C1 and fusion of C2-3 and C4-T1. This left only C3-4 as a hypermobile segment; thus, the patient was at high risk. The patient was treated successfully with a same-day, combined anteroposterior (AP) procedure.

Theiss et al reviewed 32 patients with congenital scoliosis followed for more than 10 years. [43]  Only seven (22%) developed cervical or cervical-related symptoms, and only two required surgery for their cervical-related symptoms. No fusion pattern was identified that placed the patients at greater risk for developing symptoms.

Verla et al reported a case of KFS in a 56-year-old woman where all of the cervical vertebrae were fused down to T3. [44]

Because KFS is associated with a constellation of possible abnormalities, no set of definite contraindications for surgery exists. If a surgeon believes that an operation is indicated, it is incumbent upon him or her to make certain that none of the conditions that could cause morbidity or mortality are present.

Cervical or occipitocervical instability could increase the risk of neurologic damage during intubation. An underlying heart defect could increase anesthetic risk. An underlying spinal stenosis or spinal cord abnormality could increase the risk of neurologic damage during spinal fusion for correction of deformity. A thorough workup of the patient is imperative prior to surgical intervention.


Medical Therapy

Medical therapy for KFS depends on the congenital anomalies present in the syndrome. Primary care physicians may not be familiar with all of the possible associated anomalies. Patients with genitourinary abnormalities are referred to a nephrologist or urologist. Patients with cardiovascular abnormalities are cared for by a cardiologist or primary care physician. Patients with auditory abnormalities are referred to an audiologist or an otologist.


Surgical Therapy

Surgical treatment of KFS is indicated in a variety of situations. As a result of fusion anomalies and the difference in growth potential of the anomalous vertebral bodies, deformity may be progressive. Instability of the cervical spine can develop because of craniocervical abnormalities. Instability of the cervical spine can also develop between two sets of fusion anomalies separated by a normal segment.

Neurologic deficits and persistent pain are indications for surgery. Development of a compensatory curve in the thoracic spine may require surgical intervention or bracing. Symptomatic spinal stenosis may require decompression and fusion.

Preoperatively, patients must have a comprehensive workup to detect the various anomalies that may be present (see Workup). Adequate imaging studies must be obtained. Three-dimensional (3D) computed tomography (CT) reconstruction often is useful.

Koop et al studied 13 cases of skeletally immature children who had a variety of disorders causing instability of the upper part of the cervical spine, from the occiput to C5. [45] They looked at the efficacy of posterior arthrodesis and halo-cast immobilization. Although many of the study's patients did not have KFS, the surgical indication was instability.

Posterior arthrodesis with external immobilization by halo cast was carried out; in two of the patients, internal fixation with wire was utilized. [45] Autogenous bone grafts provided solid arthrodesis in 12 patients. One patient treated with a rib allograft developed a pseudoarthrosis.

The investigators cautioned that the use of wires for fixation carries a risk of neural injury and often is not applicable in children with anomalous vertebrae. [45] They stressed the need for delicate exposure, decortication using an air drill, and placement of an autologous iliac graft. They recommended mobilization by halo cast, which they thought would minimize the risk of neural damage and provide a reliable means of obtaining arthrodesis.

As a consequence of advances in cervical total disk arthroplasty (TDA), this technology was used to address adjacent segment disease after previous anterior cervical diskectomy and fusion. [46] On the basis of this model, reports of cervical TDA used to treat degenerative disk disease associated with KFS were published, with mixed results. [47, 48, 49]

Papanastassiou et al reported failure in a 36-year-old woman with KFS involving congenital fusions at C5-6 and previous occiput-to-C3 arthrodesis who underwent cervical TDA at C4-5 and C6-7. Within 6 months, she had failure of the C4-5 implant with extrusion and required diskectomy and fusion at this level. [49]

There may, in fact, be a place for cervical TDA in the subaxial spine for adjacent-segment disease associated with KFS when there is only one fused segment. However, when degeneration is noted between two congenitally fused segments, the increased stress imposed at this level may be too much for an arthroplasty implant to tolerate in the long term.

In a retrospective study of 132 KFS patients treated at a large pediatric hospital, Hachem et al endeavored to define distinct KFS patient phenotypes that were associated with the need for surgical intervention. [50]  They identified the following phenotypes and associations:

  • Predominantly subaxial cervical spine fusions, with thoracic spine abnormalities - Associated with thoracolumbar/sacral spine surgery
  • Axial cervical spine anomalies, highly associated with cervical subluxation - Associated with cervical spine surgery
  • Heavily represented by Chiari malformation - Associated with cranial surgery
  • Thoracic vertebral anomalies, associated with sacral agenesis and scoliosis - Associated with thoracolumbar/sacral spine surgery