Klippel Feil syndrome
Other Names for this Disease
- Cervical vertebral fusion
- Cervical vertebral fusion autosomal dominant
- Cervical vertebral fusion autosomal recessive
- Congenital cervical vertebral fusion
- Congenital fused cervical segments
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Tests & Diagnosis
Klippel Feil syndrome (KFS) may be diagnosed in any person who has fusion of some or all cervical vertebrae. The fusion may be identified through imaging studies. The first case of KFS was reported in 1975. In addition to the fused spine, this man had a short neck, low hairline at the back of his head, and limited range of motion in his neck. It is now known that fewer than 50% of people with KFS have all three of these symptoms. Also, an immense number of additional anomalies have been described in association with KFS. This highlights how each case of KFS can be quite unique. People with KFS are unified only by the shared cervical spine defect.
Last updated: 8/20/2014
- Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res. July 2004; 424:183-90. http://www.ncbi.nlm.nih.gov/pubmed/15241163. Accessed 8/20/2014.
- 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.