Klippel–Feil Syndrome

Reference work entry

In 1912, Klippel and Feil described a patient with a short neck, a low posterior hairline, and a severe restriction of motion of the neck due to complete fusion of the cervical vertebrae. These features now constitute a clinical triad of the Klippel–Feil syndrome (KFS) (Hensinger et al. 1974).

Synonyms and Related Disorders

Cervical vertebral fusion

Genetics/Basic Defects

  1. 1.
    Genetic etiology unknown.
    1. a.

      Sporadic in majority of cases

    2. b.

      Rare autosomal dominant transmission: identification of a familial KFS gene locus on 8q [inv(8)(q22.2q23.3)] segregated with congenital vertebral fusion

  2. 2.

    Mechanism: failure in the process of segmentation of the vertebra.

  3. 3.
    Possible causes of phenotypic variation (Pourguie and Kusumi 2001).
    1. a.

      Variable expression of single genes

    2. b.

      Associated phenotypes due to deletions or large-scale rearrangements that disrupt several genes

    3. c.

      Secondary phenotypes resulting from disruption of normal cervical vertebral patterning

  4. 4.


Congenital Scoliosis Cervical Fusion Cervical Involvement Vertebral Fusion Hemifacial Microsomia 
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