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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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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.
- Klippel-Feil syndrome. National Institute of Neurological Disorders and Stroke (NINDS). http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm. Accessed April 8, 2008.
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- 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.
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