Learn About Klippel-Feil Syndrome

What is the definition of Klippel-Feil Syndrome?

Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining (fusion) of two or more spinal bones in the neck (cervical vertebrae). The vertebral fusion is present from birth. Three major features result from this vertebral fusion: a short neck, the resulting appearance of a low hairline at the back of the head, and a limited range of motion in the neck. Most affected people have one or two of these characteristic features. Less than half of all individuals with Klippel-Feil syndrome have all three classic features of this condition.

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What are the causes of Klippel-Feil Syndrome?

Mutations in the GDF6, GDF3, or MEOX1 gene can cause Klippel-Feil syndrome. These genes are involved in proper bone development. The protein produced from the GDF6 gene is necessary for the formation of bones and joints, including those in the spine. While the protein produced from the GDF3 gene is known to be involved in bone development, its exact role is unclear. The protein produced from the MEOX1 gene, called homeobox protein MOX-1, regulates the process that begins separating vertebrae from one another during early development.

How prevalent is Klippel-Feil Syndrome?

Klippel-Feil syndrome is estimated to occur in 1 in 40,000 to 42,000 newborns worldwide. Females seem to be affected slightly more often than males.

Is Klippel-Feil Syndrome an inherited disorder?

When Klippel-Feil syndrome is caused by mutations in the GDF6 or GDF3 genes, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

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What are the latest Klippel-Feil Syndrome Clinical Trials?
Coordination of Rare Diseases at Sanford

Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...

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Airway Management of Pediatric Patients With Klippel-Feil Syndrome

Summary: Klippel-Feil syndrome (KFS) was first described in 1912 by Klippel and Feil as a classic triad are comprised of a short neck, a low posterior hairline and restricted motion of the neck. This disease is considered as one of the congenital causes of difficult airway with the incidence of 1:42,000 live births. The current research findings suggested that the difficulties of airway management for KFS ...

Who are the sources who wrote this article ?

Published Date: June 01, 2015Published By: National Institutes of Health

What are the Latest Advances for Klippel-Feil Syndrome?
Demographics, presentation and symptoms of patients with Klippel-Feil syndrome: analysis of a global patient-reported registry.
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Endoscopic Endonasal Approach for Urgent Decompression of Craniovertebral Junction in Syringobulbia.