You are in: eMedicine Specialties > Orthopedic Surgery > SPINE Klippel-Feil SyndromeArticle Last Updated: Mar 9, 2007AUTHOR AND EDITOR INFORMATIONSection 1 of 10
  Author: J Andy Sullivan, MD, Clinical Professor of Pediatric Orthopedics, University of Oklahoma School of Medicine J Andy Sullivan is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, American Orthopaedic Association, Oklahoma State Medical Association, and Pediatric Orthopaedic Society of North America Editors: K Daniel Riew, MD, Professor, Department of Orthopedic Surgery, Washington University School of Medicine; Chief, Cervical Spine Surgery, Department of Orthopedic Surgery, Barnes-Jewish Hospital; Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine; William O Shaffer, MD, Associate Professor & Residency Program Director, Department of Orthopedic Surgery, University of Kentucky at Lexington; Dinesh Patel, MD, FACS, Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital; Mary Ann E Keenan, MD, Professor, Vice Chair for Graduate Medical Education, Department of Orthopedic Surgery, University of Pennsylvania School of Medicine; Chief of Neuro-Orthopedics Program, Department of Orthopedic Surgery, Hospital of the University of Pennsylvania Author and Editor Disclosure Synonyms and related keywords: low hairline, short neck, cervical spine disorder, synkinesia, Klippel Feil syndrome INTRODUCTIONSection 2 of 10
  In 1912, Maurice Klippel and Andre Feil independently provided the first descriptions of Klippel-Feil syndrome. They described patients who had a short, webbed neck; decreased range of motion (ROM) in the cervical spine; and a low hairline. Feil subsequently classified the syndrome into 3 categories:
In a series of articles, Samartzis and colleagues (Samartzis, Lubicky, et al, 2006; Samartzis, Herman, et al, 2006) suggested a new classification system. In this classification system, type I patients have a single-level fusion; type II patients have multiple, noncontiguous fused segments; and type III patients have multiple, contiguous fused segments. Using their system, the investigators reviewed a series of patients to clarify prognosis (see Clinical). Patients with Klippel-Feil syndrome usually present with the disease during childhood but may present later in life. The challenge to the clinician is to recognize the associated anomalies that can occur with Klippel-Feil syndrome and to perform the appropriate workup for diagnosis. FrequencyThe true incidence of Klippel-Feil syndrome is unknown. No one has ever studied a cross-section of healthy people to determine the true incidence. The incidence of Klippel-Feil syndrome has been investigated in 2 studies, using 2 different means. Gjorup and Gjorup (1964) reviewed all of the radiographic cervical spine films from a single hospital in Copenhagen. From these films, they determined an incidence of 0.2 cases per 1000 people. Brown and colleagues (1964) reviewed 1400 skeletons from the Terry collection, which was at that time located at the Washington University School of Medicine. They found an incidence of 0.71%. EtiologyThe etiology of Klippel-Feil syndrome and its associated conditions is unknown. The syndrome can present with a variety of other clinical syndromes, including fetal alcohol syndrome, Goldenhar syndrome, and anomalies of the extremities. Gunderson (1967) suggested that it is a genetic condition, while Gray (1964) found a low incidence of inheritance. Others have considered Klippel-Feil syndrome to be some type of global fetal insult, which could explain the other associated conditions. Some have considered it to be caused by vascular disruption. ClinicalClinical presentation is varied because of the different associated syndromes and anomalies that can occur in patients with Klippel-Feil syndrome. A complete history and careful physical examination may reveal some associated anomalies. From an orthopedic standpoint, most of the workup involves imaging (see Workup, Imaging Studies). Klippel-Feil syndrome 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 a decreased cervical ROM, with a low hairline occurring in 40-50% of patients. 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. Neurologic problems may develop in 20% of patients. Rouvreau (1998) found that 5 of 19 patients with Klippel-Feil syndrome had neurologic involvement; of these 5 patients, 2 had neurologic problems resulting from hypermobility at one level. Occipitocervical abnormalities were the most common cause of neurologic problems (see Images 1-4). Some patients present with pain. Hensinger and colleagues (1974), in a review of 50 patients with Klippel-Feil syndrome, found that 30 (60%) of them had associated scoliosis. In some patients with Klippel-Feil syndrome, the scoliosis is congenital (see Image 7), due to the involvement of other parts of the thoracic or lumbar spine. Other patients develop compensatory 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. While uncommon, this condition can increase the risk of neurologic involvement. Anomalies of the craniocervical junction can cause instability at lower segments. Traumatic tetraplegia has been reported following minor trauma. A Sprengel anomaly occurs in 20-30% of patients (see Image 7). 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 Image 8). An omovertebral bone ossifies with age, further limiting the ROM. A computed tomography (CT) scan best demonstrates the presence of an omovertebral bone; however, this feature can also be detected through palpation or radiographs. Other upper extremity anomalies occur less frequently. A thorough examination of the ROM and function of the upper extremity must be performed. Renal anomalies are common in individuals with Klippel-Feil syndrome, and they can be quite serious. Out of 41 patients in Hensinger's series who underwent an intravenous pyelogram, 16 were found to have renal anomalies. Minor renal anomalies—including a double collecting system, renal ectopia, and bilateral tubular ectasia—were detected in 6 of these individuals. Major renal anomalies—including hydronephrosis, absence of a kidney (see Image 10), and a horseshoe kidney—were detected in 10 patients. (For patients with Klippel-Feil syndrome, ultrasound [US] scanning now serves as the initial test used to determine whether both of an individual's kidneys are functioning.) Cardiovascular anomalies, mainly septal defects, were found in 7 patients in Hensinger's series, with 4 of these individuals requiring corrective surgery. Synkinesia, or mirror movement (see Image 9), occurred in 9 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 Klippel-Feil syndrome is established. Torticollis and facial asymmetry occur in 21-50% of patients with Klippel-Feil syndrome. These persons may also have a muscular torticollis. Craniofacial anomalies can occur as well. Less-common anomalies associated with Klippel-Feil syndrome include congenital limb deficiencies, craniosynostosis, ear abnormalities, iniencephaly, and craniofacial abnormalities. INDICATIONSSection 3 of 10
Patients with Klippel-Feil syndrome present at different ages with varying clinical manifestations. Indications for workup vary individually. For the orthopedic surgeon, the most frequent indications for surgery depend on the amount of deformity, its location, and its progression with time. Other indications include instability of the cervical spine and/or neurologic problems. These indications can occur with craniocervical junction anomalies and when 2 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. Over 50% of the patients in Hensinger's study (1974) had scoliosis. Treatment of the scoliosis with bracing or surgery was required in 18 of the 50 patients. Using their above-described classification system, Samartzis and co-investigators (Samartzis, Herman, et al) reviewed 28 patients radiographically and clinically. Mean follow-up was 8.5 years. Mean age at presentation was 7.1 years, with mean age of onset of symptoms in the symptomatic patients being 11.9 years. Sixty-four percent of patients had no symptoms. Two patients developed myelopathic symptoms (type II and type III patients). Two patients developed radiculopathic symptoms (type II and type III patients). Axial symptoms were more common in type I patients. The investigators recommended activity modification in type high-risk patients. The same authors reported on a patient who developed a symptomatic cervical disc herniation. The patient had occipitalization of C1 and fusion of C2-3 and C4-T1. This left only C3-4 as a hypermobile segment, so the patient was at high risk. The patient was successfully treated with a same-day, combined anteroposterior (AP) procedure. CONTRAINDICATIONSSection 4 of 10
Since Klippel-Feil syndrome is associated with a constellation of possible abnormalities, no set of definite contraindications exists. If a surgeon believes that an operation is indicated, it is incumbent upon him/her to make certain that none of the conditions that could cause morbidity or mortality are present. Cervical or occipitocervical instability could cause increased risk during intubation. An underlying heart defect could increase anesthetic risk. An increased risk of neurologic damage during spinal fusion for correction of deformity could result from underlying spinal stenosis or spinal cord abnormality. A thorough workup of the patient is imperative prior to surgical intervention. WORKUPSection 5 of 10
Imaging Studies
Other Tests
TREATMENTSection 6 of 10
Medical therapyMedical therapy 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 otologist. Surgical therapySurgery is indicated for a variety of situations in patients with Klippel-Feil syndrome. As a result of fusion anomalies and the difference in growth potential between the 2 sides of the spine, deformity may be progressive. Instability of the cervical spine can develop because of craniocervical abnormalities. Instability of the cervical spine can also develop between 2 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. Koop and colleagues (1984) 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. The researchers looked at the efficacy of posterior arthrodesis and halo-cast immobilization. Although many of the study's patients did not have Klippel-Feil syndrome, the surgical indication was instability. Posterior arthrodesis with external immobilization by halo-cast was carried out. In 2 of the patients, internal fixation with wire was utilized. Autogenous bone grafts provided solid arthrodesis in 12 patients. One patient treated with allograft rib 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. 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. Preoperative detailsPatients must have a comprehensive workup to detect the previously mentioned anomalies. Adequate imaging studies must be obtained. Three-dimensional CT scan reconstruction often is useful. OUTCOME AND PROGNOSISSection 7 of 10
The prognosis for Klippel-Feil syndrome depends on the potential anomalies. Careful evaluation, consistent follow-up, and coordination with other providers are required to avoid pitfalls and to avoid missing any diagnoses. The classification system created by Samartzis and colleagues is useful in predicting which patients may develop symptoms. FUTURE AND CONTROVERSIESSection 8 of 10
The true etiology and incidence of Klippel-Feil syndrome is unknown. The syndrome can occur in association with a wide variety of anomalies. Further studies may reveal the cause. The cervical anomaly is a failure of segmentation that occurs in early fetal life. To discover a cause and devise prevention or treatment is a challenge. MULTIMEDIASection 9 of 10
REFERENCESSection 10 of 10
Article Last Updated: Mar 9, 2007 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
