Klippel-Feil syndrome: Difference between revisions

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== Definition/Description  ==


The Klippel-Feil syndrome is a congenital anatomical defect in the neck, which includes fusion of two or more cervical vertebrae<ref>J. D. AUERBACH, H. S. HOSALKAR. Spinal Cord Dimensions in Children With Klippel-Feil Syndrome, A Controlled, Blinded Radiographic Analysis With Implications for Neurologic Outcomes. SPINE. 2008, Vol. 33 ; Nr. 12, p 1366–1371. Level of evidence: 1B</ref>. This syndrome is also described as congenital brevicollis syndrome<ref name="NORD">NATIONAL ORGANISATION FOR RARE DISORDERS (2003). Guide to rare disorders. Philadelphia: Lippincott Williams &amp; Wilkins. Level of evidence: D</ref>.


Feil has classified this syndrome into 3 categories:  
== Introduction  ==
Klippel-Feil syndrome (KFS) is a complex condition presenting due to abnormal fusion of [[Cervical Vertebrae|cervical vertebrae]] at [[Axis|C2]] and C3, caused by a failure in the division or normal segmentation of the cervical spine vertebrae in the early fetal development. This condition leads to a characteristic appearance of a short neck, low hairline, facial asymmetry, and limited neck mobility. The anomalies can lead to chronic [[Headache|headaches]], a limited range of neck motion, and neck [[muscle]] pain. Importantly, it can also result in [[Spinal Stenosis|spinal stenosis]], neurologic deficit, cervical spinal deformity and instability. Patients can be polysyndromic in their presentation, as well.<ref name=":0">Menger RP, Rayi A, Notarianni C. [https://www.statpearls.com/articlelibrary/viewarticle/23908/ Klippel Feil syndrome]. Available: https://www.statpearls.com/articlelibrary/viewarticle/23908/ accessed11.10.2021)</ref>
[[File:Klippel–Feil_syndrome.png|alt=|right|frameless|250x250px]]
Image 1: [[X-Rays|X-ray]] showing fused cervical vertebrae as seen in Klippel–Feil syndrome 


#Type I = A massive fusion of the cervical spine
== Etiology ==
#Type II = Fusion of 1 or 2 cervical vertebrae
The etiology of Klippel-Feil syndrome is not well known.
#Type III = Type I or II Klippel-feil syndrome with thoracic and lumbar spine anomalies<ref name="Sullivan">J. A. SULLIVAN, MARY ANN E. KEENAN (update 2011). Klippel-Feil syndrome. http://emedicine.medscape.com/article/1264848-overview. Level of evidence: 2A</ref><br>


== <br> Epidemiology /Etiology  ==
* Several studies have hypothesized that vascular disruption, global fetal insult, primary [[Brain: Developmental Divisions|neural tube]] complications, or related [[Genetic Conditions and Inheritance|genetic]] factors may carry implications in the development of KFS. 
* It can co-present with fetal alcohol syndrome, Goldenhar syndrome, as well as Sprengel deformity<ref name=":0" />.


The klippel-feil syndrome is caused by a failure of segmentation of the cervical vertebrae during the early weeks of fetal development<ref name="NORD" />. There have already been discussed several hypotheses concerning the origin of the abnormality. The following hypotheses are 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<ref name="ALBRGIGHT">A. L. ALBRGIGHT, P. D. ADELSON, IAN F. POLLACK. Principles and practice of pediatric neurosurgery. New York: Thieme medical publishers. Level of evidence: D</ref>.<br>These are just hypotheses. What exactly causes this failure of segmentation is up till now still unknown.
== Epidemiology ==


This syndrome is likely to have an incidence between 0.5 - 0.7% of life births, although it is difficult and almost impossible to define the exact incidence and prevalence of klippel-feil syndrome because of the major absence of population screening studies<ref name="ALBRGIGHT" /><ref name="Tracy" />.
# Klippel-Feil syndrome occurs in approximately 1 in 40,000 to 42,000 newborns worldwide with a slight preference for females.
# It is important to recognize that asymptomatic pediatric patients, who do not undergo cervical imaging and do not present with an obvious physical deformity, are likely to graduate into adulthood unaware of their condition.<ref name=":0" />  


== Characteristics/Clinical Presentation ==
== Clinical Presentation ==
[[File:Klippel–Feil syndrome PHOTO.png|right|frameless]]
The following list includes the most common signs and symptoms in people with Klippel-Feil syndrome (KFS). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list also does not include every symptom or feature that has been described in this condition.<ref name=":1">NIH [https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome KFS] Available: https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome (accessed 11.10.2021)</ref>


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. Flexion and extension movements are also limited, but less severe<ref name="Gilbert">PATRICIA GILBERT(2000). A-Z of syndromes and inherited disorders. Cheltenham (UK): Nelson Thornes. Level of evidence: D</ref>. &nbsp;This decreased range of motion is the most frequent clinical presentation<ref name="Sullivan" />. Less than 50% of the patients with Klippel-feil syndrome have all three of these signs<ref name="Tracy" />.
Image 2: Woman with Klippel–Feil syndrome  


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<ref name="Gilbert" />. This syndrome can also lead to chronic symptoms like neck- and extremity pain, weakness, ataxia, headaches, vision – or hearing problems and vertigo<ref name="ALBRGIGHT" />.  
* Fusion of two or more spinal bones in the neck
* Short neck and low hairline
*[[Congenital torticollis|Torticollis]]
* Congenital [[scoliosis]]
*[[Spina Bifida|Spina Bifida]]
*[[Kidney]], [[Ribs|rib]] and [[Anatomy of the Human Heart|heart]] malformations
*[[Respiratory Disorders|Respiratory problems]]
*[[Neurological Assessment|Neurologica]]<nowiki/>l deficits
* Syndactyly (webbed fingers) and hypoplastic thumb (abnormality of the thumb)
* A condition called synkinesia — or mirror movement — where movement in one hand involuntarily mimics the deliberate movement of the other hand
* Sprengel's deformity, where the [[scapula]] are underdeveloped and sit high on the back causing weakness of the [[shoulder]]<nowiki/>s
* Cleft palate
* Hearing issues<ref name=":2">Childrens Hospital Philadelphia [https://www.chop.edu/conditions-diseases/klippel-feil-syndrome KFS] Available: https://www.chop.edu/conditions-diseases/klippel-feil-syndrome<nowiki/>(accessed 11.10.2021)</ref>


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<ref name="Tracy" />. &nbsp;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. 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 craniocervial junction could cause instability at lower segments<ref name="Sullivan" />.&nbsp;
The classic complete clinical triad of the low hairline, short neck, and restricted neck motion is only present in 50% of patients with Klippel-Feil syndrome.<ref name=":0" />
 
Several studies showed that the syndrome can present with other clinical symptoms. These are the following: Goldenhar syndrome, anomalies of the extremeties, [[Scoliosis|scoliosis]], [[Adult-onset Idiopathic Torticollis|torticollis]], facial nerve paralysis, Chiari I malformation, [[Syringomyelia|Syringohydromyelina]], High-arche palate and Duane’s contracture of the lateral rectus muscle<ref>NEIDENGARD L., CARTER TE., SMITH D.W. Klippel-Feil malformation complex in fetal alcohol syndrome. Am J Dis Child. 1978; Nr. 132(9), pp. 929-30. Level of evidence: 4</ref><ref name="ALBRGIGHT" />.
 
Between 30 and 60% of patients with Klippel-feil syndrome have genito-urinary problems. These problems are mainly situated at the level of the kidneys. These patients could have a unilateral renal agenesis, malrotation of the kidney, ectopic kidney, horseshoe kidney and renal pelvic and ureteral duplication. Besides kidney problems these patients can also present with genital abnormalities. Unilateral renal agenesis is the most common anomaly among patients with KFS<ref name="ALBRGIGHT" />.<br>  


== Differential Diagnosis  ==
== Differential Diagnosis  ==


*Wildervanck syndrome or cervico-oculo-acoustic syndrome.
* Healing [[osteomyelitis]] or discitis
 
* Previous fusion without instrumentation
Patients with KFS can present with deafness, so it is important to differentiate the Klippel –feil syndrome with the Wildervanck syndrome.
* Juvenile idiopathic arthritis
 
* [[Juvenile Rheumatoid Arthritis|Juvenile rheumatoid arthritis]] can present with similar cervical spine anomalies, but a thorough workup and [[Immunoglobulins (Ig)|antibody]] testing would facilitate differentiating from KFS easily
*&nbsp;Congenital [[Scoliosis|scoliosis]]&nbsp;-&nbsp;Numerous patients with KFS are likely to have congenital scoliosis. KFS is mostly discovered when patients undergo radiography for scoliosis.
* [[Ankylosing Spondylitis|Ankylosing spondylitis]]
 
*Postinfection/ spine inflammatory disorders due to acquired spinal fusion. <br>
*Mayer-Rokitansky-Kaster-syndrome <br>
*[[Adult-onset Idiopathic Torticollis|Torticollis]]&nbsp;-&nbsp;It is important to make a differential diagnosis between muscular congenital torticollis and Klippel feil syndrome. More than 20% of the patients with KFS present with Torticollis.<br>
 
*Sprengel’s deformity&nbsp;-&nbsp;Exists in 16&nbsp;% 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.


== Diagnostic Procedures ==
== Diagnostic Procedures&nbsp;==
KFS is typically diagnosed based on a clinical examination, symptoms and imaging studies ([[X-Rays|X-rays]], [[MRI Scans|MRI]] or [[CT Scans|CT]] scan). Additional studies may be necessary to look at other parts of the skeleton and other body systems. 


Patients with KFS have a cervical deformation at birth, but are usually diagnosed at later age<ref name="Tracy">M. R. TRACY, J. P. DORMANS, K. KUSUMI. Klippel-Feil Syndrome: Clinical Features and Current Understanding of Etiology. Clinical orthopaedics and related research. 2004; Nr. 424, pp. 183–190. Level of evidence: 2C</ref>. &nbsp;Some patients are diagnosed while undergoing radiography for other reasons related or even not related to this syndrome<ref name="NORD" /> This syndrome is usually diagnosed when the presentation of complaints occur. The most important complaints are pain and neurologic symptoms<ref name="Tracy" />.&nbsp;  
* Some people with KFS have few or no symptoms, and are diagnosed by chance after having imaging studies for some other reason.<ref name=":1" />
* This syndrome is usually diagnosed when the presentation of complaints occur<ref name="Tracy">Tracy MR, Dormans JP, Kusumi K. Klippel-Feil Syndrome: Clinical Features and Current Understanding of Etiology. Clinical orthopaedics and related research. 2004; Nr. 424, pp. 183–190. Level of evidence: 2C</ref>.&nbsp;


Neurologic exams are designated when neurologic symptoms appear<ref name="ALBRGIGHT" />. In addition, Radiographic evaluation is necessary to determine the diagnosis of klippel-feil syndrome. <br>Spinal fusion can be documented by plain films and CT-scans, only with combined myelo-CT or rather a magnetic resonance image (MRI)<ref name="NORD" />. 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<ref name="Tracy" />.  
== Treatment ==
No definitive treatment exists.  


Magnetic resonance imaging 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 maformation compresses the brain, brainstem or the spinal cord<ref name="Tracy" />.  
* Lifestyle modifications and preventive activities include avoidance of contact sports eg rugby.
* Neck braces and [[Traction for Neck Pain CPR|traction]] may provide symptomatic relief<ref>Radiopedia [https://radiopaedia.org/articles/klippel-feil-syndrome-3 KFS] Available: https://radiopaedia.org/articles/klippel-feil-syndrome-3<nowiki/>(accessed 11.10.2021)</ref>.
* Patients with persistent neurological [[Pain Assessment|pain]], [[myelopathy]], new-onset muscle group weakness, and documented spinal instability are operative candidates. Spinal deformities and instability drive surgical decision making. The surgeon can perform cervical fusion from either anterior or posterior approaches secondary to evaluation<ref name=":0" />.


== Physical Examination  ==
== Physical Therapy Management ==
Klippel-Feil Syndrome can benefit from physiotherapy however these vary depending upon the person, their pain, severity and preferences


The clinical presentation of Klippel-Feil syndrome 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. <br>A complete history and careful physical examination may reveal some associated anomalies. From an orthopedic standpoint, most of the workup involves imaging.<br>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 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.<br>Other patients present with torticollis or facial asymmetry. In very young children, it is important to differentiate congenital muscular torticollis from Klippel-Feil syndrome. 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.<br>Rouvreau found that five of 19 patients with Klippel-Feil syndrome had neurologic involvement; of these five, two had neurologic problems resulting from hypermobility at one level. Occipitocervical abnormalities were the most common cause of neurologic problems . Some patients present with pain.<ref>http://emedicine.medscape.com/article/1264848-clinical</ref>  
* For axial symptoms and [[radiculopathy]], physiotherapists can use soft tissue [[massage]] and soft tissue [[Manual Therapy|mobilisation techniques]]. Avoid spinal manipulation.
* [[Aerobic Exercise|Aerobic]] (eg walking) and [[Aquatherapy|aquatic exercise]] (eg swimming) are preferred.  
* Low intensity exercises are preferred as compared to strenuous exercises which might aggravate the problem .
* Avoid contact sports, exercises with falls, tumbling, jumping, and exercises stressing the cervical spine. Non-contact sports are recommended.
* Postural exercises and strengthening of neck, shoulder, and periscapular musculature is recommended in most patients.  
* [[Range of Motion|Range of motion]] should be increased in cases of torticollis and Sprengel's deformity.
* Scoliosis strengthening/stretching techniques ([[Scoliosis|see here]]) and [[Diaphragmatic Breathing Exercises|breathing exercises]].
* A [[Adherence to Home Exercise Programs|home exercise program]].<ref>Disease maps [https://www.diseasemaps.org/klippel-feil-syndrome/top-questions/natural-treatment/ Is there any natural treatment for Klippel-Feil Syndrome?] Available:https://www.diseasemaps.org/klippel-feil-syndrome/top-questions/natural-treatment/ (accessed 11.10.2021)</ref>


== Medical Management  ==
KFS cannot be resolved with physical therapy.


For the orthopedic surgeon, the most frequent indications for surgical treatment of Klippel-Feil syndrome 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.<br>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.<br>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. Treatment of the scoliosis with bracing or surgery was required in 18 of the 50 patients.<br>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). &nbsp;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.<br>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; thus, the patient was at high risk. The patient was treated successfully with a same-day, combined anteroposterior (AP) procedure.<br>Theiss et al reviewed 32 patients with congenital scoliosis followed for more than 10 years. 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.<br>Because Klippel-Feil syndrome 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.<br>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 for Klippel-Feil syndrome 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.  
* Physical therapy in combination with non-steroidal [[Pain Medications|medications]] could be useful to prevent degenerative changes.
* When a patient has several fused vertebrae the risk of [[Osteoarthritis|osteoarthritic changes]] is increased because of the immobile joint. It is likely that the superior joint undergoes degenerative changes with formation of osteophytes. This can lead to [[Radiculopathy]] and/or [[myelopathy]].<ref>An HS, Simpson MJ. Surgery of the cervical spine. London: Baltimore: Williams & Wilkins, 1994. Print.


Surgical treatment of Klippel-Feil syndrome 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.<br>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.<br>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.  
</ref><ref>Tollison DC, Satterhtwaite JR. Practical Pain Management. Philadelphia: Lippincott Williams & Wilkins, 2002. Print.


== <br>Physical Therapy Management  ==
</ref>


Klippel-Feil syndrome cannot be resolved with physical therapy. Nevertheless physical therapy in combination with non-steroidal medications could be useful to prevent degenerative changes. When a patient has several fused vertebrae like in Klippel-Feil syndrome, the risk of osteoarthritic changes is increased because of the immobile joint. It is likely that the superior joint undergoes degenerative changes with formation of osteophytes. This can lead to [[Radiculopathy|Radiculopathy]] and/or [[Myelopathy|myelopathy]], therefore the goal of physical therapy is to prevent or to delay this damage. If physical therapy does not work, surgical management is necessary to relieve compression on the nerve roots<ref>AN H. S., SIMPSON M. J. (1994). Surgery of the cervical spine. London: Martin Dunitz Limited. Level of evidence: D</ref><ref>TOLLISON D.C., SATTERHTWAITE J.R. (2002). Practical pain management. Philadelphia: fckLRLippincott Williams &amp; Wilkins. Level of evidence: D</ref>.<br>  
== Outlook ==
The prognosis for most children with KFS is good if the condition is diagnosed early in life. Continued monitoring for complications and treatment are important to successful long-term outcomes for individuals with KFS<ref name=":2" />.<br>


== References  ==
== References  ==
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[[Category:Cervical_Conditions]] [[Category:Cervical_Spine]] [[Category:Bones]] [[Category:Musculoskeletal/Orthopaedics]] [[Category:Bone Conditions]]
[[Category:Cervical Spine - Conditions]]   [[Category:Cervical_Spine]] [[Category:Bones]] [[Category:Musculoskeletal/Orthopaedics]] [[Category:Bone - Conditions]]
[[Category:Paediatrics - Conditions]]

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Original Editor - Emy Van Rode

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Introduction[edit | edit source]

Klippel-Feil syndrome (KFS) is a complex condition presenting due to abnormal fusion of cervical vertebrae at C2 and C3, caused by a failure in the division or normal segmentation of the cervical spine vertebrae in the early fetal development. This condition leads to a characteristic appearance of a short neck, low hairline, facial asymmetry, and limited neck mobility. The anomalies can lead to chronic headaches, a limited range of neck motion, and neck muscle pain. Importantly, it can also result in spinal stenosis, neurologic deficit, cervical spinal deformity and instability. Patients can be polysyndromic in their presentation, as well.[1]

Image 1: X-ray showing fused cervical vertebrae as seen in Klippel–Feil syndrome

Etiology[edit | edit source]

The etiology of Klippel-Feil syndrome is not well known.

  • Several studies have hypothesized that vascular disruption, global fetal insult, primary neural tube complications, or related genetic factors may carry implications in the development of KFS.
  • It can co-present with fetal alcohol syndrome, Goldenhar syndrome, as well as Sprengel deformity[1].

Epidemiology[edit | edit source]

  1. Klippel-Feil syndrome occurs in approximately 1 in 40,000 to 42,000 newborns worldwide with a slight preference for females.
  2. It is important to recognize that asymptomatic pediatric patients, who do not undergo cervical imaging and do not present with an obvious physical deformity, are likely to graduate into adulthood unaware of their condition.[1]

Clinical Presentation[edit | edit source]

Klippel–Feil syndrome PHOTO.png

The following list includes the most common signs and symptoms in people with Klippel-Feil syndrome (KFS). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list also does not include every symptom or feature that has been described in this condition.[2]

Image 2: Woman with Klippel–Feil syndrome

  • Fusion of two or more spinal bones in the neck
  • Short neck and low hairline
  • Torticollis
  • Congenital scoliosis
  • Spina Bifida
  • Kidney, rib and heart malformations
  • Respiratory problems
  • Neurological deficits
  • Syndactyly (webbed fingers) and hypoplastic thumb (abnormality of the thumb)
  • A condition called synkinesia — or mirror movement — where movement in one hand involuntarily mimics the deliberate movement of the other hand
  • Sprengel's deformity, where the scapula are underdeveloped and sit high on the back causing weakness of the shoulders
  • Cleft palate
  • Hearing issues[3]

The classic complete clinical triad of the low hairline, short neck, and restricted neck motion is only present in 50% of patients with Klippel-Feil syndrome.[1]

Differential Diagnosis[edit | edit source]

Diagnostic Procedures [edit | edit source]

KFS is typically diagnosed based on a clinical examination, symptoms and imaging studies (X-rays, MRI or CT scan). Additional studies may be necessary to look at other parts of the skeleton and other body systems.

  • Some people with KFS have few or no symptoms, and are diagnosed by chance after having imaging studies for some other reason.[2]
  • This syndrome is usually diagnosed when the presentation of complaints occur[4]. 

Treatment[edit | edit source]

No definitive treatment exists.

  • Lifestyle modifications and preventive activities include avoidance of contact sports eg rugby.
  • Neck braces and traction may provide symptomatic relief[5].
  • Patients with persistent neurological pain, myelopathy, new-onset muscle group weakness, and documented spinal instability are operative candidates. Spinal deformities and instability drive surgical decision making. The surgeon can perform cervical fusion from either anterior or posterior approaches secondary to evaluation[1].

Physical Therapy Management[edit | edit source]

Klippel-Feil Syndrome can benefit from physiotherapy however these vary depending upon the person, their pain, severity and preferences

  • For axial symptoms and radiculopathy, physiotherapists can use soft tissue massage and soft tissue mobilisation techniques. Avoid spinal manipulation.
  • Aerobic (eg walking) and aquatic exercise (eg swimming) are preferred.
  • Low intensity exercises are preferred as compared to strenuous exercises which might aggravate the problem .
  • Avoid contact sports, exercises with falls, tumbling, jumping, and exercises stressing the cervical spine. Non-contact sports are recommended.
  • Postural exercises and strengthening of neck, shoulder, and periscapular musculature is recommended in most patients.
  • Range of motion should be increased in cases of torticollis and Sprengel's deformity.
  • Scoliosis strengthening/stretching techniques (see here) and breathing exercises.
  • A home exercise program.[6]

KFS cannot be resolved with physical therapy.

  • Physical therapy in combination with non-steroidal medications could be useful to prevent degenerative changes.
  • When a patient has several fused vertebrae the risk of osteoarthritic changes is increased because of the immobile joint. It is likely that the superior joint undergoes degenerative changes with formation of osteophytes. This can lead to Radiculopathy and/or myelopathy.[7][8]

Outlook[edit | edit source]

The prognosis for most children with KFS is good if the condition is diagnosed early in life. Continued monitoring for complications and treatment are important to successful long-term outcomes for individuals with KFS[3].

References[edit | edit source]

  1. ↑ 1.0 1.1 1.2 1.3 1.4 Menger RP, Rayi A, Notarianni C. Klippel Feil syndrome. Available: https://www.statpearls.com/articlelibrary/viewarticle/23908/ accessed11.10.2021)
  2. ↑ 2.0 2.1 NIH KFS Available: https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome (accessed 11.10.2021)
  3. ↑ 3.0 3.1 Childrens Hospital Philadelphia KFS Available: https://www.chop.edu/conditions-diseases/klippel-feil-syndrome(accessed 11.10.2021)
  4. ↑ Tracy MR, Dormans JP, Kusumi K. Klippel-Feil Syndrome: Clinical Features and Current Understanding of Etiology. Clinical orthopaedics and related research. 2004; Nr. 424, pp. 183–190. Level of evidence: 2C
  5. ↑ Radiopedia KFS Available: https://radiopaedia.org/articles/klippel-feil-syndrome-3(accessed 11.10.2021)
  6. ↑ Disease maps Is there any natural treatment for Klippel-Feil Syndrome? Available:https://www.diseasemaps.org/klippel-feil-syndrome/top-questions/natural-treatment/ (accessed 11.10.2021)
  7. ↑ An HS, Simpson MJ. Surgery of the cervical spine. London: Baltimore: Williams & Wilkins, 1994. Print.
  8. ↑ Tollison DC, Satterhtwaite JR. Practical Pain Management. Philadelphia: Lippincott Williams & Wilkins, 2002. Print.
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