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==Prognosis==
==Prognosis==


The [[heterogeneity]] of the Klipppel-Feil syndrome has made it difficult to outline the [[diagnosis]] as well as the [[prognosis]] classes for this disease. Because of this, it has complicated the exact explanation of the genetic [[etiology]] of the syndrome.
The [[heterogeneity]] of the Klippel-Feil syndrome has made it difficult to outline the [[diagnosis]] as well as the [[prognosis]] classes for this disease. Because of this, it has complicated the exact explanation of the genetic [[etiology]] of the syndrome.


The [[prognosis]] for most individuals with KFS is good if the disorder is treated early on and appropriately. Activities that can injure the neck should be avoided, as it may contribute to further damage. Other diseases associated with the syndrome can be fatal if not treated, or if found too late to be treatable.<ref name="CartwrightWallace2007">{{cite book|author1=Cathy C. Cartwright|author2=Donna C. Wallace|title=Nursing care of the pediatric neurosurgery patient|url=http://books.google.com/books?id=G6o3uSlfRKcC&pg=PA205|accessdate=25 December 2010|date=3 May 2007|isbn=978-3-540-29703-1|pages=205–}}</ref>
The [[prognosis]] for most individuals with KFS is good if the disorder is treated early on and appropriately. Activities that can injure the neck should be avoided, as it may contribute to further damage. Other diseases associated with the syndrome can be fatal if not treated, or if found too late to be treatable.<ref name="CartwrightWallace2007">{{cite book|author1=Cathy C. Cartwright|author2=Donna C. Wallace|title=Nursing care of the pediatric neurosurgery patient|url=http://books.google.com/books?id=G6o3uSlfRKcC&pg=PA205|accessdate=25 December 2010|date=3 May 2007|isbn=978-3-540-29703-1|pages=205–}}</ref>

Revision as of 18:45, 19 October 2012

Klippel–Feil syndrome
SpecialtyMedical genetics Edit this on Wikidata

Klippel–Feil syndrome is a rare disease, initially reported in 1912 by Maurice Klippel and André Feil from France,[1] characterized by the congenital fusion of any 2 of the 7 cervical vertebrae.[2]: 578  In fact, "Klippel-Feil syndrome" occurs in a heterogeneous group of patients unified only by the presence of a congenital defect in the formation or segmentation of the cervical spine.

Signs and symptoms

Numerous associated abnormalities of other organ systems may be present. This heterogeneity requires comprehensive evaluation of all patients and treatment regimes that can vary from modification of activities to extensive spinal surgeries. Furthermore, it is unclear whether Klippel–Feil syndrome is a discrete entity, or if it is one point on a spectrum of congenital spinal deformities. Klippel-Feil syndrome can sometimes be diagnosed before birth but usually after birth.

The most common signs of the disorder are a short neck, low hairline at the back of the head, and restricted mobility of the upper spine.

Associated abnormalities may include:

  • scoliosis (side-to-side curvature of the spine), which is abnormal exaggerated curving of the spine. The spine sometimes appears as a “C” or an “S”.
  • spina bifida, when the spinal canal and the back bone do not close completely during birth.
  • anomalies of the kidneys and the ribs,
  • cleft palate(hole in the roof of the mouth),
  • respiratory problems,
  • and heart malformations.
  • short stature
  • Duane syndrome

The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, fingers and a heart defects. These heart defects almost always lead to stunted ages in patients, the average being 35-45 years of age among males and 40-50 among women. This condition is similar to the heart failure seen in gigantism. [3]

In 2011, a study identifying the occurrence of symptoms of 100 patients was published.[4]

Prevalence

The actual prevalence of Klippel-Feil syndrome is unknown due to the fact that there was no study done to determine the true prevalence. [5]

Although the actual occurrence for the KFS syndrome is unknown, it is estimated to occur 1 in 40,000 to 42,000 newborns worldwide. In addition, females seem to be affected slightly more often than males. [6]


Classification

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:

  • Type I - Fusion of C2 and C3 with occipitalization of the atlas. Further complications were later reported by McRae in 1953. Flexion and extension is concentrated within the C1 and C2. As with aging, an odontoid can become hypermobile, which narrows the spinal cord and brain stem.
  • Type II - Long fusion below C2 with an abnormal occipital-cervical junction. Similar to the C2-C3 fusion of McRae and could be reviewed as a more elaborate variation. Flexion, extension, and rotation are all concentrated in the area of the abnormal odontoid or poorly developed ring of C1 which cannot withstand the effects of aging. Difference in pattern from the patient with a long fusion and a normal C1-C2 articulation, is that C1-C2 can live a normal life expectancy.
  • Type III - A single open interspace between two fused segments. Cervical spine motion is concentrated at single open articulation. This hypermobility may lead to instability or degenerative osteoarthritis. This pattern can be recognized as the cervical spine is often seen to be at an angle or hinge at this open segment.

A classification scheme for Klippel–Feil syndrome was proposed in 1919 by Andre Feil, which accounted for cervical, thoracic, and lumbar spine malformations.[7]

However, recently, Dino Samartzis and colleagues in 2006 proposed 3 classification-types that specifically addressed the cervical spine anomalies and their associated cervical spine-related symptoms, with additional elaboration on various time-dependent factors regarding this syndrome.[8]

Treatment

Treatment for Klippel–Feil syndrome is symptomatic and may include surgery to relieve cervical or craniocervical instability and constriction of the spinal cord, and to correct scoliosis.[citation needed]

When non-surgical therapies such as physical therapy fail to provide relief from your symptoms your doctor might recommend spinal surgery. Adjacent segment disease and scoliosis are two examples of common symptoms associated with Klippel-Feil syndrome, and may be treated surgically. The three categories treated for types of spinal cord deficiencies are massive fusion of the cervical spine (Type I), the fusion of 1 or 2 vertebrae (Type II), and the presence of thoracic and lumbar spine anomalies in association with type I or type II Klippel-Feil syndrome (Type III).

Adjacent segment disease can be addressed by performing cervical disc arthroplasty using a device such as the Bryan cervical disc prosthesis.[9] The option of the surgery is to maintain range of motion and attenuate the rate of adjacent segment disease advancement without fusion.[10] Another type of arthroplasty that is becoming an alternate choice to spinal fusion is Total Disc Replacement. Total disc replacement objective is to reduce pain or eradicate it.[11] Spinal fusion is commonly used to correct spinal deformities such as scoliosis. Arthrodesis is the last resort in pain relieving procedures, usually when arthroplasties fail.

Prognosis

The heterogeneity of the Klippel-Feil syndrome has made it difficult to outline the diagnosis as well as the prognosis classes for this disease. Because of this, it has complicated the exact explanation of the genetic etiology of the syndrome.

The prognosis for most individuals with KFS is good if the disorder is treated early on and appropriately. Activities that can injure the neck should be avoided, as it may contribute to further damage. Other diseases associated with the syndrome can be fatal if not treated, or if found too late to be treatable.[12]

Genetics

Pedigree analysis has identified a specific location of a gene on a chromosome for Klippel-Feil Syndrome. Mutations in the GDF6 and GDF3 genes have also been identified to cause the disease. Although some people with Klippel-Feil syndrome do not have identified mutations in the GDF6 or GDF3 genes. In this case, the cause of the condition in these individuals is unknown. GDF6 and GDF3 genes provide the body with instructions for making proteins involved in regulating the growth and maturation of bone and cartilage. These proteins actively regulate cell growth in embryonic and adult tissue. GDF6 specifically is involved in the formation of vertebral bones, among others, and establishing boundaries between bones in skeletal development while GDF3 is involved with bone and cartilage growth. Mutations cause reductions in these functional proteins but, it is unclear exactly how a shortage in these proteins leads to incomplete separation of the vertebrae in people with Klippel-Feil syndrome.[13] However, when the GDF6 gene was knocked out in mice, the result was the fusion of bones.[14] Only by identifying the link between the genetic etiology and the phenotypic pathoanatomy of Klippel–Feil syndrome will we be able to rationalize the heterogeneity of the syndrome.


These mutations can be inherited in two ways:

  • Autosomal recessive inheritance, where both copies of a gene contain mutations, is especially associated with C5-C6 fusion.[16]
  • Another autosomal dominant form (mapped on locus 8q22.2) known as Klippel–Feil syndrome with laryngeal malformation has been identified. It is also known as Segmentation syndrome 1.[17][18]


See also: Dominance (genetics)

Notable cases

The 18th Dynasty Egyptian pharaoh Tutankhamun is believed by some to have suffered from Klippel–Feil syndrome,[19] though others dispute this claim.[20] A more recent case is the English cricketer Gladstone Small.[21]

In 2009, archaeologists excavating at a Neolithic site in northern Vietnam discovered the remains of a young man with Klippel–Feil syndrome, who had apparently been supported by his subsistence-level community for at least a decade before his death.[22]

Another case of a child in Switzerland was discovered in a necropolis dated between 4500 and 4000 years B.C.E..[23]

References

  1. ^ Klippel M, Feil A. Un cas d'absence des vertebres cervicales. Avec cage thoracique remontant jusqu'a la base du crane (cage thoracique cervicale). Nouv Iconog Salpetriere. 1912;25:223-250.
  2. ^ Andrews, James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. ^ McGaughran, J M. "Audiology abnormalities in the Klippel-Feil Syndrome." Arch Dis Child. 79.4 (1998): 352-355. Web. 26 Feb. 2012. <https://illiad.library.csupomona.edu/illiad/illiad.dll?SessionID=O202741971V&Action=10&Form=75&Value=206780>;
  4. ^ Longpre D. http://www.cyberquebec.ca/klippelfeil/document/klippelfeilsymptoms2011.pdf
  5. ^ Angeli, E., Wagner, J., Lawrick, E., Moore, K., Anderson, M., Soderland, L., & Brizee, A. (2010, May 5). General format title. Retrieved from http://owl.english.purdue.edu/owl/resource/560/01/
  6. ^ http://ghr.nlm.nih.gov/condition=klippel-feil-syndrome
  7. ^ Feil A. L'absence et la diminuaton des vertebres cervicales (etude cliniqueet pathogenique); le syndrome dereduction numerique cervicales. Theses de Paris; 1919.
  8. ^ Samartzis DD, Herman J, Lubicky JP, Shen FH (2006). "Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms". Spine. 31 (21): E798–804. doi:10.1097/01.brs.0000239222.36505.46. PMID 17023841.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  9. ^ Goffin J, Casey A, Kehr P, Liebig K, Lind B, Logroscino C, Pointillart M.D., Calenbergh F, Loon J; et al. (2002). "Preliminary Clinical Experience With The Bryan Cervical Disc Prosthesis". Neurosurgery. 51 (3): 840–845. {{cite journal}}: Explicit use of et al. in: |author= (help)CS1 maint: multiple names: authors list (link)
  10. ^ Papanastassiou, I., Baaj, A., Dakwar, E., Eleraky, M., and Vrionis, F., (2011). Failure of Cervical Arthroplasty In A Patient with Adjacent Segment Disease Associated with Klippel-Feil Syndrome. Indian Journal of Orthopaedics.,45(2), 174-177.
  11. ^ Phillips F., Garfin S. (2005). "Cervical Disc Replacement". Spine. 30 (17): 27–33.
  12. ^ Cathy C. Cartwright; Donna C. Wallace (3 May 2007). Nursing care of the pediatric neurosurgery patient. pp. 205–. ISBN 978-3-540-29703-1. Retrieved 25 December 2010.
  13. ^ http://ghr.nlm.nih.gov/condition=klippel-feil-syndrome
  14. ^ http://www.ncbi.nlm.nih.gov/pubmed/18425797
  15. ^ http://ghr.nlm.nih.gov/condition=klippel-feil-syndrome
  16. ^ http://ghr.nlm.nih.gov/condition=klippel-feil-syndrome
  17. ^ http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148900
  18. ^ http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=6838
  19. ^ "Tutankhamun shows his face 80 years after tomb is opened". The Telegraph. London. Retrieved 2007-07-12.
  20. ^ Boyer RS, Rodin EA, Grey TC, Connolly RC (2003). "The skull and cervical spine radiographs of Tutankhamen: a critical appraisal". AJNR. American journal of neuroradiology. 24 (6): 1142–7. PMID 12812942.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  21. ^ Hughes, Simon (1997-09-05). "Small gains from wealth of partners". Cricinfo. Retrieved 2007-12-13.
  22. ^ "Oldest Known Paralyzed Human Discovered". Retrieved 2009-08-09.
  23. ^ http://www.cyberquebec.ca/klippelfeil/histoire.html

This article incorporates information in the public domain prepared by the National Institute of Neurological Disorders and Stroke.

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