Klippel-Feil syndrome: Difference between revisions
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== Clinical Presentation == | == Clinical Presentation == | ||
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>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> | 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> | ||
* Fusion of two or more spinal bones in the neck | * Fusion of two or more spinal bones in the neck | ||
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* [[Ankylosing Spondylitis|Ankylosing spondylitis]] | * [[Ankylosing Spondylitis|Ankylosing spondylitis]] | ||
== Diagnostic Procedures | == Diagnostic Procedures == | ||
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.<ref name=":1" /> | |||
* This syndrome is usually diagnosed when the presentation of complaints occur<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>. | |||
== Treatment == | |||
No definitive treatment exists. | |||
* Lifestyle modifications and preventive activities include avoidance of contact sports eg rugby. | |||
* Neck braces and 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, 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 Therapy Management == | |||
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 & Wilkins. Level of evidence: D</ref>.<br> | 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 & Wilkins. Level of evidence: D</ref>.<br> | ||
Revision as of 01:54, 11 October 2021
Original Editor - Emy Van Rode
Top Contributors - Emy Van Rode, Lucinda hampton, Kim Jackson, Rachael Lowe, Priyanka Chugh, Oyemi Sillo, WikiSysop, Rucha Gadgil, 127.0.0.1, Admin and Evan Thomas
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]
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.[1]
Clinical Presentation[edit | edit source]
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]
- Fusion of two or more spinal bones in the neck
- Short neck and low hairline
- Torticollis, also called twisted or crooked neck, where the head is tipped to one side and the chin is turned to the other
- Congenital scoliosis, a curvature of the spine caused by congenital fusions
- Spina bifida, a congenital disorder caused by the incomplete closing in utero of the neural tube which encases the spinal cord
- 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 scapulae (shoulder blades) 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]
- Healing osteomyelitis or discitis
- Previous fusion without instrumentation
- Juvenile idiopathic arthritis
- Juvenile rheumatoid arthritis can present with similar cervical spine anomalies, but a thorough workup and antibody testing would facilitate differentiating from KFS easily
- Ankylosing spondylitis
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 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 and/or 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[6][7].
References[edit | edit source]
- ↑ 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)
- ↑ 2.0 2.1 NIH KFS Available: https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome (accessed 11.10.2021)
- ↑ Childrens Hospital Philadelphia KFS Available: https://www.chop.edu/conditions-diseases/klippel-feil-syndrome(accessed 11.10.2021)
- ↑ 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
- ↑ Radiopedia KFS Available: https://radiopaedia.org/articles/klippel-feil-syndrome-3(accessed 11.10.2021)
- ↑ AN H. S., SIMPSON M. J. (1994). Surgery of the cervical spine. London: Martin Dunitz Limited. Level of evidence: D
- ↑ TOLLISON D.C., SATTERHTWAITE J.R. (2002). Practical pain management. Philadelphia: fckLRLippincott Williams & Wilkins. Level of evidence: D