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 Table of Contents  
Year : 2019  |  Volume : 13  |  Issue : 2  |  Page : 121-123

Step toward diagnosing a rare condition: Klippel–Feil syndrome

Department of Musculoskeletal Sciences, Ashok and Rita Patel Institute of Physiotherapy, CHARUSAT, Anand, Gujarat, India

Date of Submission05-Sep-2018
Date of Decision09-Jan-2019
Date of Acceptance21-May-2019
Date of Web Publication07-Oct-2019

Correspondence Address:
Dr. Heta Rajnikant Patel
Department of Musculoskeletal Sciences, Ashok and Rita Patel Institute of Physiotherapy, CHARUSAT, Anand - 388 421, Gujarat
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/PJIAP.PJIAP_41_18

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Klippel–Feil syndrome (KFS) was first delineated by Maurice Klippel and Andre Feil in 1912 in a patient with congenital fusion of cervical vertebrae. The traditional clinical triad of KF disorder is low posterior hairline, short neck, and restriction of head-and-neck range of motion (ROM). In general, the symptoms and radiographic changes go hand in hand if there is an occurrence of KF disorder. However, the present case has pain in neck and stiffness without any neurological signs correlating with the positive radiological findings of lower cervical spine fusion and dysplasia. A young 35 year old female presented to the outpatient department of physiotherapy with complaints of pain in the neck and morning stiffness. On examination, a clinical triad, i.e., lower posterior hairline, short neck, and restriction of head and neck range of motion were noted. Single-level cervical fusion was reported on radiological investigation. Axial symptoms such as neck pain, neck stiffness, and neck ROM restriction are the predominant symptoms of KFS. The present case fitted into KFS Type II patients' category where patients exhibit a solitary combined cervical portion.

Keywords: Classical clinical triad, Klippel–Feil syndrome, single fused cervical segment

How to cite this article:
Patel HR, Bhatt K. Step toward diagnosing a rare condition: Klippel–Feil syndrome. Physiother - J Indian Assoc Physiother 2019;13:121-3

How to cite this URL:
Patel HR, Bhatt K. Step toward diagnosing a rare condition: Klippel–Feil syndrome. Physiother - J Indian Assoc Physiother [serial online] 2019 [cited 2022 May 20];13:121-3. Available from: https://www.pjiap.org/text.asp?2019/13/2/121/268641

  Introduction Top

Klippel–Feil syndrome (KFS) is an unprecedented condition, portrayed as an inappropriate division of at least one cervical spine fragment with or without related spinal or extraspinal manifestations. It was first portrayed by Maurice Klippel and Andre Feil in 1912 in a patient with a congenital fusion of cervical vertebrae.[1] In KF issue, customarily, there is a triad of short neck, a low posterior hairline, and a limited range of movement. All three signs are present in typical cases of  Klippel-Feil syndrome More Details. KFS occurs in 1 in 42,000 births, and 60% of cases are female.[2] Conventionally, KFS was accepted to clinically present in adulthood because of the postponed influences of inherent vertebral fusion. In any case, more as of late, contemplates have discovered that up to 50% of young KFS patients encounter cervical spine-related symptoms[3],[4] such as pain, stiffness, and constrained range of movement of cervical spine as a result of which there might be alteration in spinal biomechanics, delivering an improved probability of hypermobility or hypomobility, spondylolisthesis, and degenerative changes of cervical spine.

In general, the symptoms and radiographic changes go hand in hand in case of KFS., Although the patient in the present case (young 35 year old female) had positive signs in radiographic images in the form of fusion and dysplasia at lower cervical spine, she had only pain and stiffness without neurological involvement.

  Case Report Top

A 35-year-old female presented to the outpatient physiotherapy unit in March 2018 with complaints of pain in the neck and morning stiffness for 15–20 days. There was a gradual onset of dull-aching pain which was aggravated by heavy weight lifting of 2.5–3 kg. The onset of pain in the neck was noticeable when the patient attempted to lift weight (2.5–3 kg) and read for about 10–15 min. Furthermore, she noticed that the pain was more pronounced while keeping her head in a specific static position like sleeping without a pillow at night for about 3–4 h. Her sleep was disturbed by pain. Altering the neck position gave her a relief of symptoms. She reported that, during sneezing activity, there was aggravation in pain. Her complaint was still worsened due to stiffness at the cervical spine for 15–20 min, and it was eventually calmed by negligible neck movements and by applying hot pack for 15–20 min. Moreover, she did not have any episodes of tingling, numbness, heaviness, or weakness in the neck as well as in both arms. She did not report any history of trauma, jerk, and swelling from the site of pain. Adding to this, she did not have any episodes of fainting, vertigo, headache, or any other health-related problem, i.e., dizziness and reduced appetite.

On observation, her sitting and standing postures were as follows: her head was in the midline and there was a slight reduction in cervical lordotic curvature. From the front, her chin was in line with the manubrium, and from the side view, her ears were forward in line with the shoulder. Furthermore, she had short neck posture, and low hairline was noted at the neck region. Moreover, she had bilateral protracted shoulder, and there was no abnormality in the thoracic region.

Musculoskeletal examination revealed pain while assessing neck range of motion (ROM) (Numerical Pain Rating Scale 7/10); while performing passive overpressure on cervical extension and cervical rotations on either side, symptoms were severe. Cervical spine examination revealed grade-2 tenderness at C4, C5, C6 spinous process, transverse process, and facet joints. Based on cervical flexion rotation test, hypomobility was detected at C5–C6 level and hypermobility was detected at C3–C4 level.

[Table 1] shows the neck functional assessment which examined the neck muscle strength.[5]
Table 1: Neck functional assessment

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Furthermore, she was able to perform activities such as breathing, swallowing, looking down at the floor, and tuck chin without any pain.[5] On screening, there were no neurological and vascular symptoms.

Radiographs of cervical spine (anteroposterior and lateral views) demonstrated fusion of C4–C5 vertebrae, marginal osteophytes present on the anterior margins of the C5–C6 vertebrae and right-sided short cervical rib, and dysplasia at C4 cervical vertebrae [Figure 1].
Figure 1: Radiographs of cervical spine: (a) lateral view (b) anteroposterior view

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Outcome measures

Neck Disability Index

Neck Disability Index[6] was assessed to identify the level of pain, stiffness, and affection of functional activities of daily living. She scored 8 out of 50, which was interpreted as mild disability.

Craniocervical Flexion Test

Craniocervical flexion test[7] was used to measure the deep neck flexor muscle endurance. The patient was able to hold only up to 24 mmHg pressure for 10 s. It was suggestive of reduction in deep flexor muscle endurance.

Spinal mobility

According to Mennell's classification, there were ankylosis at C4–C5 region, with slight hypomobility in the upper region and hypermobility in the lower region [Table 2].
Table 2: Interpretation of cervical mobility according to Mennell's classification

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  Discussion Top

KFS is a congenital anatomical defect in the neck, which includes fusion of two or more cervical vertebrae.[8] In the present case, the patient had lower posterior hairline, neck stiffness, and vertebral dysplasia. This classical triad is seen in about 40%–50% of individuals, and the most common finding is restriction of movements with a ratio of 50%–76%.[3],[4]

Feil has classified this syndrome into three categories – Type I-A: massive fusion of the cervical spine, Type II: fusion of one or two cervical vertebrae, and Type III: Type I or II KFS with thoracic and lumbar spine anomalies. Type II is the most common; C2–C3 and C5–C6 interspaces are most often fused.[9]

In the present case, there was a fusion of one level of cervical vertebrae that was noted at the level of C4 and C5 based on manual palpation. Moreover, it was confirmed by radiological investigation. KFS often results in musculoskeletal-related congenital lesions such as congenital scoliosis or kyphosis (60%) and flattening of neck (20%). Due to congenital lesion, cases were reported with disc degeneration.[10],[11] The above findings were similarly correlating with our case in the form of marginal osteophyte formation at the level of C5 and C6, which suggests the initiation of degeneration.

On physical examination, there was a vertebra ankylosed at C4 and C5; in response to this, there was hypermobility at C2–C3 and C3–C4 and hypomobility at C5–C6 and C6–C7 regions. This findings were in accordance with the study by Pizzutillo et al., 1994, who reported the risk factors of KFS and proposed the theory behind the development of hypermobility, and degenerative changes. It is often attributed to alter spinal biomechanics as a result of improper vertebral fusion which exhibits increase motion across intervertebral spaces of upper cervical spine. It may predispose to increase spinal degeneration.[12]

Alteration in the spine biomechanics leads to reduced ROM at different levels, causing a reduction in the strength and functional activity. Similar phenomenon was observed in our case, alarming our patients to correct range and strength for maintaining the functional level.[13],[14]

Only a limited number of cases were observed in literature, making it impossible to generalize the findings regarding the onset of natural history and prognosis of the condition. KFS is not symptomatic with neurological involvement, and every radiographic change does not convey the hands-on assessment outcome.

  Conclusion Top

The present case is classified under the type II category of KFS. In light of our perception, all the cervical spine cases ought to be screened legitimately to rule out such congenital fusion for further line of the management. Moreover, it should be noted with appropriate signs and symptoms.

Informed consent

A written consent form was obtained from the patient in English language.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published, and due efforts will be made to conceal identification.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Jones KL. Smith's Recognizable Pattern of Human Malformation. 5th ed. Philadelphia: WB Saunders Company; 1997.  Back to cited text no. 1
Stephen R Pledger. Ortho Secrets. 3rd Ed 2003. Cervical Spine Disease.  Back to cited text no. 2
Samartzis D, Kalluri P, Herman J, Lubicky JP, Shen FH. Cervical scoliosis in the Klippel-Feil patient. Spine (Phila Pa 1976) 2011;36:E1501-8.  Back to cited text no. 3
Ritterbusch JF, McGinty LD, Spar J, Orrison WW. Magnetic resonance imaging for stenosis and subluxation in Klippel-Feil syndrome. Spine (Phila Pa 1976) 1991;16:S539-41.  Back to cited text no. 4
Palmer ML, Epler M. Clinical Assessment Procedures in Physical Therapy. Philadelphia: J.B. Lippincott; 1990. p. 181-2.  Back to cited text no. 5
Stratford PW, Riddle DL, Binkley JM, Spadoni G, Westaway MD, Padfield B, et al. Using the Neck Disability Index to make decisions concerning individual patients. Physiother Can 1999:51:107-112, 119.  Back to cited text no. 6
Domenech MA, Sizer PS, Dedrick GS, McGalliard MK, Brismee JM. The deep neck flexor endurance test: Normative data scores in healthy adults. PM R 2011;3:105-10.  Back to cited text no. 7
Auerbach JD, Hosalkar HS, Kusuma SK, Wills BP, Dormans JP, Drummond DS, et al. Spinal cord dimensions in children with Klippel–Feil syndrome: A controlled, blinded radiographic analysis with implications for neurologic outcomes. Spine (Phila Pa 1976) 2008;33:1366-71.  Back to cited text no. 8
Nagib MG, Maxwell RE, Chou SN. Identification and management of high-risk patients with Klippel-Feil syndrome. J Neurosurg 1984;61:523-30.  Back to cited text no. 9
Van Kerckhoven MF, Fabry G. The Klippel-Feil syndrome: A constellation of deformities. Acta Orthop Belg 1989;55:107-18.  Back to cited text no. 10
Sudhakar AS, Nguyen VT, Chang JB. Klippel-Feil syndrome and supra-aortic arch anomaly: A case report. Int J Angiol 2008;17:109-11.  Back to cited text no. 11
Pizzutillo PD, Woods M, Nicholson L, MacEwen GD. Risk factors in Klippel-Feil syndrome. Spine (Phila Pa 1976) 1994;19:2110-6.  Back to cited text no. 12
Vogt L, Segieth C, Banzer W, Himmelreich H. Movement behaviour in patients with chronic neck pain. Physiother Res Int 2007;12:206-12.  Back to cited text no. 13
Klein P, Sommerfeld P. Biomechanics of the Spine: Fundamentals, Insights and Issues. Munich: Elsevier, Urban & Fischer; 2007.  Back to cited text no. 14


  [Figure 1]

  [Table 1], [Table 2]


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