Klippel-Feil Syndrome
Abigail McDonald
Biology Pre-Ap N3
February 11, 2014

THE HISTORY OF KLIPPEL-FEIL

• First adequately described in 1912 by Maurice Klippel and Andre Feil (the first people credited)
• Earliest evidences date back to writings from the 13th and 16th centuries
• This syndrome has even been seen in a mummy from 500 B.C.
• In 1919 Feil defined the three subtypes
• Klippel and Feil pointed out this disorder in a French tailor with a short neck

ALSO CALLED:

• cervical vertebral fusion
• congenital cervical synostosis
• isolated Klippel-Feil syndrome
• KFS

•Research•
The Klippel-Feil Alliance
is one of the top researchers
of this rare disease.

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What's really going on?
~the vertebrae (typically in the neck) are improperly fused/joined

KFS

How does one get Klippel-Feil?
-the exact cause still remains unknown, but it appears most commonly in women and the cause appears to be a combination of genetics and spontaneous mutations

Diagnosis
•KFS is typically diagnosed in infancy, but sometimes goes unnoticed until later on in life

Diagnosis (Continued)
•most people affected have some combination, or all three, of the following key symptoms
-limited range of motion
-low posterior hairline
-short neck

Diagnosis (Continued)
•KFS can often be clearly seen in X-Rays and quickly diagnosed properly

Treatments:
*the treatment of KFS itself is dependent upon the extent of the disease, usually surgery to fuse the bones is used as means of a "cure "
*many people turn to physical therapy to receive relief from pain

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Research:
•Klippeil-Feil Syndrome Alliance ( http://kfsalliance.org )

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:Additional information:
Other problems caused by KFS-
•heart deformities
•anomalies in the ribs
• abnormalities of the head and face, sex organs, muscles, arms, legs, and fingers.

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*Images*

Additional Information
*as pictured here, some patients experience involuntary "mirroring" on the opposite side of their body when performing certain movements

Reading:
-here are two very interesting articles to read that provide informative facts and interesting background information
-http://omim.org/entry/118100
(omim.org)
-http://boneandjoint.org.uk/highwire/filestream/19744/field_highwire_article...
(bone and joint.org.uk)

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