Klippel-Feil Syndrome

BPT Lecture 2021

1. Klippel-Feil Syndrome Dr. Dibyendunarayan Bid MPT, PGDSPT, PhD Sarvajanik College of Physiotherapy, Surat

2. Definition/Description The Klippel-Feil syndrome is a congenital anatomical defect in the neck, which includes fusion of two or more cervical vertebrae. Also described as congenital brevicollis syndrome . Feil has classified this syndrome into 3 categories: Type I = A massive fusion of the cervical spine Type II = Fusion of 1 or 2 cervical vertebrae Type III = Type I or II Klippel-Feil syndrome with thoracic and lumbar spine anomalies

3. Epidemiology /Etiology The KFS is caused by a failure of segmentation of the cervical vertebrae during the early weeks of fetal development. There are several hypotheses concerning the origin of the abnormality. Like: primary vascular disruption, global fetal insult , primary neural tube anomaly, genetic predisposition and at last facet joint segmentation failure. It is also possible that the syndrome is the result of maternal alcoholism, due to fetal alcohol syndrome.

4. These are just hypotheses. What exactly causes this failure of segmentation is up till now still unknown. This syndrome is likely to have an incidence between 0.5 - 0.7% of life births .

5. Characteristics/Clinical Presentation People with Klippel-Feil in general appear to have a “short neck” with a low hairline due to the fusion of several cervical vertebrae. Together with this short neck, there are skin folds passing to the shoulders, due to the fusion of the cervical spine. Because of the fusion there is also a decreased mobility in the neck. Particularly side-to-side movements and rotational movements are difficult to execute.

6. Flexion and extension movements are also limited, but less severe.   This decreased range of motion is the most frequent clinical presentation. Less than 50% of the patients with Klippel-Feil syndrome have all three of these signs.

7. It is possible that complications occur by injury of the spinal cord. Symptoms are numbness, paresthesia, spasticity or paralysis. These complication can occur in a person with Klippel-Feil syndrome by a minor fall, stumble or knock. This syndrome can also lead to chronic symptoms like neck- and extremity pain, weakness, ataxia, headaches, vision – or hearing problems and vertigo.

8. Patients with type II KFS are likely to have an increased curvature develop of the spine in the sagittal plane. Patients with type I and III have a higher risk for development of scoliosis.   Torticollis or facial asymmetry can occur in 21-50% of the patients with KFS. It is important to make a differential diagnosis between congenital muscular torticollis and Klippel-Feil syndrome.

9. To differentiate these two, radiographic plains have to be made, but in little children it is hard to do so, especially of the craniocervical junction. Anomalies of the craniocervical junction could cause instability at lower segments. 

10. Several studies showed that the syndrome can present with other clinical symptoms. These are the following: Goldenhar syndrome, anomalies of the extremities,   scoliosis, torticollis, facial nerve paralysis, Chiari I malformation, Syringohydromyelina, High-arched palate and Duane’s contracture of the lateral rectus muscle.

11. Between 30 and 60% of patients with KFS have genito -urinary problems. These problems are mainly situated at the level of the kidneys. These patients could have a unilateral renal agenesis, mal-rotation of the kidney, ectopic kidney, horseshoe kidney and renal pelvic and ureteral duplication.

12. Besides kidney problems these patients can also present with genital abnormalities. Unilateral renal agenesis is the most common anomaly among patients with KFS.

13. Differential Diagnosis Wildervanck syndrome or cervico - oculo -acoustic syndrome. Patients with KFS can present with deafness, so it is important to differentiate the KFS with the Wildervanck syndrome. Congenital scoliosis - Numerous patients with KFS are likely to have congenital scoliosis. KFS is mostly discovered when patients undergo radiography for scoliosis. Postinfection / spine inflammatory disorders due to acquired spinal fusion.

14. Mayer- Rokitansky - Kaster -syndrome Torticollis -  It is important to make a differential diagnosis between muscular congenital torticollis and KFS. More than 20% of the patients with KFS present with Torticollis. Sprengel’s deformity - Exists in 16 % of patients with KFS, but can also present without KFS. So it must be verified if a patient with Sprengel’s deformity also presents with KFS.

15. Diagnostic Procedures Patients with KFS have a cervical deformation at birth, but are usually diagnosed at later age.   Some patients are diagnosed while undergoing radiography for other reasons related or even not related to this syndrome.   This syndrome is usually diagnosed when the presentation of complaints occur. The most important complaints are pain and neurologic symptoms. 

16. Neurologic exams are designated when neurologic symptoms appear. In addition, Radiographic evaluation is necessary to determine the diagnosis of KFS. Spinal fusion can be documented by plain films and CT-scans, only with combined myelo -CT or rather a MRI.

17. An MRI including flexion and extension MRI is designated when complaints of instability and/or spinal stenosis (LINK) appear. Instability associated with an adjacent fused segment can be tested with translation of the vertebral corpus on another. Pseudoluxation of C2 on C3 or C3 on C4 is a normal phenomenon in children with KFS younger than the age of 8 years.

18. MRI can give valuable information about the space available for the spinal cord, determination of spinal stenosis caused by the deformation, and CSN abnormalities like; Syrinx , tethered cord, or diastomyelia . It is also used to determine if the cervical malformation compresses the brain, brainstem or the spinal cord.

19. Physical Examination The clinical presentation of KFS is varied because of the different associated syndromes and anomalies that can occur in patients with this syndrome. In children in particular, the classic clinical triad of manifestations (see Background) may not all be present. A complete history and careful physical examination may reveal some associated anomalies. From an orthopedic standpoint, most of the workup involves imaging.

20. 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.

21. 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 Klippel-Feil syndrome.

22. 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 found that 27% developed symptoms in the first decade.

23. Occipitocervical abnormalities were the most common cause of neurologic problems. Some patients present with pain.

24. Medical Management The most frequent indications for surgical treatment of KFS 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 two fused segments are separated by a normal segment .

25. 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.

26. Other patients may develop compensatory or associated congenital scoliosis, which also can be progressive over time and requires fusion to prevent progressive deformity. Treatment of the scoliosis with bracing or surgery was required in 18 of the 50 patients . Surgical treatment of KFS is indicated in a variety of situations.

27. 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.

28. 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. Adequate imaging studies must be obtained. Three-dimensional (3D) computed tomography (CT) reconstruction often is useful.

29. Physiotherapy Management KFS cannot be resolved with physiotherapy. Nevertheless physiotherapy in combination with non-steroidal medications could be useful to prevent degenerative changes. When a patient has several fused vertebrae like in KFS, the risk of OA changes is increased because of the immobile joint. It is likely that the superior joint undergoes degenerative changes with formation of osteophytes .

30. This can lead to  Radiculopathy  and/or  myelopathy , therefore the goal of physiotherapy is to prevent or to delay this damage. If physiotherapy does not work, surgical management is necessary to relieve compression on the nerve roots.