Klippel Feil syndrome
Other Names for this Disease
- Cervical vertebral fusion
- Congenital cervical vertebral fusion
- Congenital fused cervical segments
- Isolated Klippel-Feil syndrome
- Klippel-Feil malformation
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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.Klippel Feil syndrome (KFS) is a congenital,
Last updated: 9/10/2015
- Klippel-Feil Syndrome Information Page. NINDS. September 16, 2011; http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm.
- Klippel-Feil syndrome. Genetics Home Reference. June, 2015; http://ghr.nlm.nih.gov/condition/klippel-feil-syndrome.
- 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.
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- 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
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