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Klippel-Feil syndrome
Classification and external resources
ICD-10 Q76.1
ICD-9 756.16
OMIM 118100 214300 148900
DiseasesDB 7197
eMedicine orthoped/408
MeSH D007714

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.

Contents

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.

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:

The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers.

Classification

A classification scheme for Klippel–Feil syndrome was proposed in 1919 by Andre Feil, which accounted for cervical, thoracic, and lumbar spine malformations.[3]

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.[4]

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. As an alternative to surgery Chiropractic adjustments have been found to be effective at relieving pain and irritation. Physical therapy may also be useful. In fact, the KFS heterogeneity requires comprehensive treatment regimes that can vary from modification of activities to extensive spinal surgeries.

Prognosis

The heterogeneity of KFS also has made delineation of diagnostic and prognostic classes difficult and has complicated elucidation of the genetic etiology of the syndrome.

The prognosis for most individuals with KFS is good if the disorder is treated early and appropriately. Activities that can injure the neck should be avoided. Anomalies associated with the syndrome can be fatal if not treated, or if found too late to be treatable.

Genetics

  • Pedigree analysis has identified a human genetic locus for the disease.
  • Mouse models suggest members of the PAX gene family and Notch signaling pathway as possible etiologic candidates.
  • 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.
  • Autosomal dominant inheritance is especially associated with C2-C3 fusion.
  • Autosomal recessive inheritance is especially associated with C5-C6 fusion.
  • 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.[5][6]

Notable cases

The 18th Dynasty Egyptian pharaoh Tutankhamun is believed by some to have suffered from Klippel–Feil syndrome,[7] though others dispute this claim.[8] A more recent case is the English cricketer Gladstone Small.[9]

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.[10]

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. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
  3. ^ Feil A. L'absence et la diminuaton des vertebres cervicales (etude cliniqueet pathogenique); le syndrome dereduction numerique cervicales. Theses de Paris; 1919.
  4. ^ 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. 
  5. ^ http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=148900
  6. ^ http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=6838
  7. ^ "Tutankhamun shows his face 80 years after tomb is opened". The Telegraph. London. http://www.telegraph.co.uk/news/main.jhtml?xml=/news/2002/09/30/ntuts30.xml. Retrieved 2007-07-12. 
  8. ^ 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. http://www.ajnr.org/cgi/content/full/24/6/1142. 
  9. ^ Hughes, Simon (1997-09-05). "Small gains from wealth of partners". Cricinfo. http://content-www.cricinfo.com/ci/content/story/74180.html. Retrieved 2007-12-13. 
  10. ^ "Oldest Known Paralyzed Human Discovered". http://dsc.discovery.com/news/2009/08/06/paralyzed-human.html. Retrieved 2009-08-09. 

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

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