Klippel-Feil syndrome

Klippel-Feil syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 7197
ICD10 = ICD10|Q|76|1|q|65
ICD9 = ICD9|756.16
ICDO =
OMIM = 118100
OMIM_mult = OMIM2|214300 OMIM2|148900 | MedlinePlus =
eMedicineSubj = orthoped
eMedicineTopic = 408
MeshID = D007714

Klippel-Feil syndrome is a rare disorder, initially reported in 1912 by Maurice Klippel and Andre Feil from France, [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.] characterized by the congenital fusion of any 2 of the 7 cervical vertebrae.

Causes

It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.

Presentation

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),
* spina bifida,
* anomalies of the kidneys and the ribs,
* cleft palate,
* very few respiratory problems,
* and heart malformations.

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. [Feil A. L'absence et la diminuaton des vertebres cervicales (etude cliniqueet pathogenique); le syndrome dereduction numerique cervicales. Theses de Paris; 1919.]

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. [cite journal |author=Samartzis DD, Herman J, Lubicky JP, Shen FH |title=Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms |journal=Spine |volume=31 |issue=21 |pages=E798–804 |year=2006 |pmid=17023841 |doi=10.1097/01.brs.0000239222.36505.46 |url=]

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. Physical therapy may also be useful.

Prognosis

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.

Notable cases

The 18th Dynasty Egyptian pharaoh Tutankhamun is believed by some to have suffered from Klippel-Feil syndrome, [cite web |url=http://www.telegraph.co.uk/news/main.jhtml?xml=/news/2002/09/30/ntuts30.xml |title=Tutankhamun shows his face 80 years after tomb is opened | Egypt | Africa And Indian Ocean | International News | News | Telegraph |accessdate=2007-07-12 |format= |work=] though others dispute this claim. [cite journal |author=Boyer RS, Rodin EA, Grey TC, Connolly RC |title=The skull and cervical spine radiographs of Tutankhamen: a critical appraisal |journal=AJNR. American journal of neuroradiology |volume=24 |issue=6 |pages=1142–7 |year=2003 |pmid=12812942 |doi= |url=http://www.ajnr.org/cgi/content/full/24/6/1142] A more recent case is the English cricketer Gladstone Small. [cite web
last=Hughes
first=Simon
url=http://content-www.cricinfo.com/ci/content/story/74180.html
title=Small gains from wealth of partners
publisher=Cricinfo
date=1997-09-05
accessdate=2007-12-13]

References

"This article incorporates information in the public domain prepared by the [http://www.ninds.nih.gov/ National Institute of Neurological Disorders and Stroke] ."

External links

*dmoz|Health/Conditions_and_Diseases/Musculoskeletal_Disorders/Congenital_Anomalies/Klippel-Feil_Syndrome/
* [http://www.cafamily.org.uk/Direct/k20.html Klippel-Feil syndrome in the Contact a Family Directory]


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