Klippel-Feil syndrome
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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 |
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Klippel-Feil syndrome is a rare disorder, initially reported in 1912 by Maurice Klippel and Andre Feil from France,[1] 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 short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Associated abnormalities may include scoliosis (curvature of the spine), spina bifida, anomalies of the kidneys and the ribs, cleft palate, 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. [1]
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. [1]
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[1], though others dispute this claim.[1]
References
This article incorporates information in the public domain prepared by the National Institute of Neurological Disorders and Stroke.
External links
- Klippel-Feil syndrome at the Open Directory Project
- Klippel-Feil syndrome in the Contact a Family Directory
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
