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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Klippel Feil syndrome


Other Names for this Disease

  • Cervical vertebral fusion
  • Cervical vertebral fusion autosomal dominant
  • Cervical vertebral fusion autosomal recessive
  • Klippel Feil syndrome autosomal dominant
  • Klippel Feil syndrome autosomal recessive
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Tests & Diagnosis

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How is Klippel Feil syndrome diagnosed?

Klippel Feil syndrome (KFS) may be diagnosed in any person who has fusion of some or all cervical vertebrae.[1] The fusion may be identified through imaging studies. The first case of KFS was reported in 1975. In addition to the fused spine, this man had a short neck, low hairline at the back of his head, and limited range of motion in his neck. It is now known that fewer than 50% of people with KFS have all three of these symptoms.[1] Also, an immense number of additional anomalies have been described in association with KFS.[1] This highlights how each case of KFS can be quite unique. People with KFS are unified only by the shared cervical spine defect.[1]
Last updated: 8/20/2014

References
  1. Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res. July 2004; 424:183-90. http://www.ncbi.nlm.nih.gov/pubmed/15241163. Accessed 8/20/2014.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Cervical vertebral fusion
  • Cervical vertebral fusion autosomal dominant
  • Cervical vertebral fusion autosomal recessive
  • Klippel Feil syndrome autosomal dominant
  • Klippel Feil syndrome autosomal recessive
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.