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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is Klippel Feil Syndrome?


What are the symptoms of Klippel Feil syndrome?

How is Klippel Feil syndrome diagnosed?

What is Klippel Feil Syndrome?

Klippel Feil syndrome is a musculoskeletal disorder that is present from birth. It is characterized by the fusion of at least two vertebrae of the neck. Most cases are sporadic but in some cases, it can be inherited in an autosomal dominant or autosomal recessive fashion. Common symptoms of Klippel Feil syndrome include short neck, low hairline at the back of the head, and restricted mobility of the upper spine.[1]
Last updated: 7/26/2013

What are the symptoms of Klippel Feil syndrome?

Symptoms of Klippel Feil syndrome include short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Other symptoms that occur in some patients include curvature of the spine, spina bifida, kidney abnormalities, rib abnormalities, cleft palate, respiratory problems, and heart malformations. The disorder may also be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers.[1]
Last updated: 7/26/2013

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.[2] 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.[2] Also, an immense number of additional anomalies have been described in association with KFS.[2] This highlights how each case of KFS can be quite unique. People with KFS are unified only by the shared cervical spine defect.[2]
Last updated: 8/20/2014

References
  1. Klippel-Feil syndrome. National Institute of Neurological Disorders and Stroke (NINDS). 2007; http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm. Accessed 4/8/2008.
  2. 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.


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.