| Klippel-Feil syndrome | |
|---|---|
| Classification and external resources | |
| ICD-10 | Q76.1 |
| ICD-9 | 756.16 |
| OMIM | 118100 214300 |
| 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.
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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, 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.
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:
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 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.
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.[5]
The 18th Dynasty Egyptian pharaoh Tutankhamun is believed by some to have suffered from Klippel–Feil syndrome,[8] though others dispute this claim.[9] A more recent case is the English cricketer Gladstone Small.[10]
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.[11]
12 Longpre, D http://www.cyberquebec.ca/klippelfeil/recherche_symptomes_kfs2011.pdf ou http://www.cyberquebec.ca/klippelfeil/klippelfeilsymptoms2011.pdf
This article incorporates information in the public domain prepared by the National Institute of Neurological Disorders and Stroke.
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