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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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Your Question

Can Klippel Feil syndrome become life threatening?

Our Answer

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What is the prognosis for people with Klippel Feil syndrome?

People with Klippel Feil syndrome have fusion of at least two vertebrae of the neck. Beyond this however signs and symptoms can vary greatly. Symptoms that occur in some people with Klippel Feil syndrome 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] Many of the severe complications of Klippel-Feil syndrome are due to risks associated with specific anomalies or defects (e.g., of the kidney or heart), and with neurological injury due to instability, degernative joint or disc disease, or occipitocervical anomalies.[2] Complications from neurological injury can range from pain, paralysis, to death.[2]

Due to the variability of symptoms and symptom severity, prognosis must be assessed individually for each person with Klippel Feil syndrome. In general, people with minimal involvement lead normal, active lives with no significant restrictions or symptoms.[2] Severely involved people with Klippel Feil syndrome require careful and routine follow-up but have a good prognosis if their symptoms and complications are treated early.[2]
Last updated: 10/1/2010