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Diseases

Genetic and Rare Diseases Information Center (GARD)

Klippel Feil syndrome


Other Names for this Disease
  • Cervical vertebral fusion
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Overview

Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This condition can cause chronic headaches as well as pain in both the neck and the back. Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, affected people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.[1][2]
Last updated: 9/10/2015

References

  1. Klippel-Feil Syndrome Information Page. NINDS. September 16, 2011; http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm.
  2. Klippel-Feil syndrome. Genetics Home Reference. June, 2015; http://ghr.nlm.nih.gov/condition/klippel-feil-syndrome.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    Klippel Feil syndrome, Autosomal dominant
    Klippel Feil syndrome, Autosomal recessive
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Klippel Feil syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Cervical vertebral fusion
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.