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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
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Overview


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

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.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Klippel Feil syndrome. This website is maintained by the National Library of Medicine.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on Orphanet to access the pages on Klippel-Feil syndrome.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Klippel Feil syndrome, Autosomal dominant and Klippel Feil syndrome, Autosomal recessive forms of this syndrome. Click on the links above to go to OMIM and review these resources.
  • Medscape Reference provides information on this topic. Click on the link to view this information. 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.
  • 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.