Klippel-Feil Syndrome Clinical Presentation

Updated: Apr 20, 2021
  • Author: Thomas R Lewis, MD; Chief Editor: Jeffrey A Goldstein, MD  more...
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History and Physical Examination

The clinical presentation of Klippel-Feil syndrome (KFS; also referred to as cervical vertebral fusion syndrome) is varied because of the different associated syndromes and anomalies that can occur in patients with the syndrome. In children in particular, the classic clinical triad of manifestations (see Background) may not all be present. [24]  

A complete history and careful physical examination may reveal some associated anomalies. From an orthopedic standpoint, most of the workup involves imaging (see Imaging Studies).

KFS is detected throughout life, often as an incidental finding. Patients with upper cervical spine involvement tend to present at an earlier age than those whose involvement is lower in the cervical spine. Most patients present with a short neck and decreased cervical range of motion (ROM), with a low hairline occurring in 40-50% of cases. Decreased ROM is the most frequent clinical finding. Rotational loss usually is more pronounced than is the loss of flexion and extension.

Other patients present with torticollis or facial asymmetry. In very young children, it is important to differentiate congenital muscular torticollis from KFS. It is often difficult to obtain good plain radiographs of young children with torticollis, especially radiographs of the craniocervical junction.

Neurologic problems may develop in 20% of patients. Gray et al found that 27% developed symptoms in the first decade. [4]  Rouvreau et al found that five of 19 patients with KFS had neurologic involvement; of these five, two had neurologic problems resulting from hypermobility at one level. [25]  Occipitocervical abnormalities were the most common cause of neurologic problems (see the images below). Some patients present with pain. [26]

An anomaly of the occipitocervical junction in a p An anomaly of the occipitocervical junction in a patient with Klippel-Feil syndrome. The anomaly was unstable and was fused.
Posterior photo of a patient with Klippel-Feil syn Posterior photo of a patient with Klippel-Feil syndrome and an anomaly of the occipitocervical junction. The image shows an elevated left shoulder due to a Sprengel anomaly; a short, webbed neck; and a low hairline.
This patient has Klippel-Feil syndrome and an anom This patient has Klippel-Feil syndrome and an anomaly of the occipitocervical junction. The patient's flexion and extension after the occipitocervical fusion is demonstrated. His rotation was very limited.
Flexion of the cervical spine in a patient who had Flexion of the cervical spine in a patient who had an occipitocervical fusion.

Nagib et al [5]  reviewed 21 cases of KFS (10 male, 11 female) over a 25-year period to identify high-risk patients and described the treatments required. Eight patients had been admitted for genitourinary complications or cardiovascular or otologic anomalies. Of the 21, 12 had no neurologic deficit, and 11 of these 12 had a single block vertebra with no other cervical or craniocervical anomalies; nine had neurologic deficits occurring spontaneously or after minor trauma (these had the most varied and complicated radiographic findings).

According to the classification system described above, there were four type I patients with an unstable fusion pattern, three type II patients with craniocervical abnormalities, and two type III patients with fusion anomalies and spinal stenosis. [5]  Nine patients (43%) required decompression and stabilization in the second or third decade of life.

The investigators concluded that types I and II are commonly combined with hypermobility of the craniocervical junction. [5]  Foramen magnum encroachment may be associated with tight dural bands or upward migration of the odontoid. In type III patients, they found that the level of stenosis could be above or below the abnormal area.

Hensinger et al, in a review of 50 patients with KFS, found that 30 (60%) had associated scoliosis. [27, 28]  In some patients with KFS, the scoliosis is congenital (see the image below), owing to the involvement of other parts of the thoracic or lumbar spine. Other patients develop scoliosis in the thoracic spine, to compensate for cervical or cervicothoracic scoliosis. In addition to fusion anomalies in the cervical spine, cervical spinal stenosis can occur; though uncommon, it can increase the risk of neurologic involvement.

This anteroposterior radiograph of the spine in a This anteroposterior radiograph of the spine in a patient with Klippel-Feil syndrome demonstrates congenital scoliosis and a Sprengel deformity.

Anomalies of the craniocervical junction can cause instability at lower segments. Traumatic tetraplegia has been reported after minor trauma. [29]  A Sprengel anomaly occurs in 20-30% of patients. [30]  The ROM of the shoulders must be checked, and the patient should be examined for an omovertebral bone, an osteocartilaginous connection that tethers the scapula to the spine (see the image below).

This radiograph demonstrates an omovertebral bone This radiograph demonstrates an omovertebral bone (marked with 2 arrows). This anomaly limits cervical spine motion.

An omovertebral bone ossifies with age, further limiting ROM. Computed tomography (CT) is best for demonstrating the presence of an omovertebral bone; however, this feature can also be detected through palpation or radiography. Other upper-extremity anomalies occur less frequently. A thorough examination of upper-extremity ROM and function must be performed.

Renal anomalies are common in individuals with KFs, and they can be quite serious. Out of 41 patients in Hensinger's series who underwent intravenous pyelography (IVP), 16 were found to have renal anomalies. Minor renal anomalies—including a double collecting system, renal ectopia, and bilateral tubular ectasia—were detected in six of these individuals. Major renal anomalies—including hydronephrosis, absence of a kidney (see the image below), and a horseshoe kidney—were detected in 10.

This intravenous pyelogram was performed before ul This intravenous pyelogram was performed before ultrasound was available to image the kidneys. Note unilateral absence of the left kidney.

For patients with KFS, ultrasonography (US) now serves as the initial test to determine whether both kidneys are functioning. [31]

Cardiovascular anomalies, mainly septal defects, were found in seven patients in Hensinger's series, with four of these individuals requiring corrective surgery. [27] Synkinesia, or mirror movement (see the image below), occurred in nine of the 50 patients. Hearing was impaired in 15 of 41 patients tested. Early audiometric and otologic evaluation are indicated in all children when the diagnosis of KFS is established. [32]

This photo demonstrates synkinesia. As the patient This photo demonstrates synkinesia. As the patient attempts to oppose the thumb and finger of the right hand, the same movement occurs involuntarily in the left.

Torticollis and facial asymmetry occur in 21-50% of patients with KFS. These persons may also have a muscular torticollis. [33]  Craniofacial anomalies can occur as well. [34]

Less common anomalies associated with KFS include congenital limb deficiencies (see the image below), craniosynostosis, ear abnormalities, iniencephaly, and craniofacial abnormalities. [35, 36, 37, 38, 39, 40]

Congenital anomaly of the forearm in a patient wit Congenital anomaly of the forearm in a patient with Klippel-Feil syndrome.

Kenna et al studied 95 children with KFS (55 male, 40 female; mean age at presentation, 5.8 years) who underwent otolaryngology consulation over a 26-year period. [41] The otolaryngologic conditions most commonly associated with the syndrome were conductive hearing loss (n = 49; 52%), sensorineural hearing loss (n = 38; 40%), and dysphagia (n = 37; 39%). The most challenging otolaryngologic problems involved airway issues related to cervical spine fusion.