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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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Tests & Diagnosis

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How is Klippel Feil syndrome diagnosed?

Klippel Feil syndrome (KFS) is typically diagnosed when X-rays or other imaging techniques show fusion of cervical vertebrae. X-rays of the entire spine should be performed to detect other spinal abnormalities, and additional imaging studies may be needed to assess the extent of the abnormality.[1]

KFS can be associated with a wide range of other abnormalities involving many parts of the body. Therefore, other initial exams are needed to detect additional physical abnormalities or underlying conditions. These include:[1]
  • examination of the chest to rule out involvement of the heart and lungs
  • examination of the chest wall to detect possible rib anomalies
  • MRI for spinal stenosis or neurological deficits
  • ultrasound of the kidneys for renal abnormalities
  • hearing evaluation due to high incidence of hearing loss
  • Various lab tests to assess organ function
Additional tests or consultations with specialists may be recommended depending on the features present in each person with KFS.
Last updated: 9/29/2015

References
  1. Thomas R Lewis. Klippel-Feil Syndrome. Medscape Reference. January 26, 2015; http://emedicine.medscape.com/article/1264848-overview#showall.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Cervical vertebral fusion
  • Congenital cervical vertebral fusion
  • Congenital fused cervical segments
  • Isolated Klippel-Feil syndrome
  • Klippel-Feil malformation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.