Klippel Feil Syndrome (Congenital Synostosis of Cervical Vertebra)

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An Overview of Klippel Feil Syndrome

Klippel Feil Syndrome stems from the time of human development in the uterus. In embryological terms, humans start to form the spine through structures called somites. These somites develop soon after inception and start forming the vertebra by separating at about 3-8 weeks of development. Klippel Feil Syndrome is a failure of segmentation of one or more of these somites in the neck. In other words, the segments don’t separate. This causes, in effect a “fusion” of the two cervical vertebral segments.

The reason this developmental error is called Klippel Feil Syndrome is due to the observation of Maurice Klippel and Andre Feil. These physicians independently described this condition in 1912.

Klippel Feil Syndrome is normally found as an incidental finding. This means that this congenital fusion normally causes no symptoms by itself. There might be preexisting decreased range of motion of the neck, but most people with this condition would not notice this decreased motion.

Are you suffering from symptoms of Klippel Feil Syndrome?

There are two ways to consult with Dr. Corenman about your condition:
You can provide current X-rays and/or MRIs for a clinical case review.
You can schedule an office consultation that should be covered by your insurance.

REQUEST CASE REVIEW OR OFFICE CONSULTATION

(Please keep reading below for more information on this condition.)

The main problem with Klippel Feil Syndrome is that normal degenerative changes occur around the fusion and eventually, symptoms occur from these degenerative changes. These are the typical complaints that most individuals have who do not have Klippel Feil Syndrome suffer from; neck pain, stiffness, shoulder and arm pain and nerve compression symptoms.

There is a small subset of patients who have other congenital anomalies associated with Klippel Feil Syndrome. These include renal abnormalities (kidney), Sprengel’s deformity (the scapula or shoulder blade sits high on the upper back), and other more rare conditions. In younger individuals, an ultrasound of the kidneys may be indicated.

For additional resources on Klippel Feil Syndrome, please contact the Vail, Aspen, Denver and Grand Junction, Colorado office of Dr. Donald Corenman, spine specialist and neck doctor.

(Click to Enlarge Image) The white arrow points to the congenital fusion segment. Note the significant degenerative segments above and below this fusion segment. These degenerative segments have occurred secondary to genetic and occupational factors unrelated to the Klippel Feil segment.

(Click to Enlarge Image) The black arrow points to the congenital fusion on this X-ray.

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