Klippel-Feil Syndrome

Definition

Congenital abnormality of the cervical spine characterised by deformity & fusion of adjacent vertebral segments & may be associated with local cervical instability.
Includes all variations of congenital failure of segmentation from simple fusion of adjacent vertebrae to involvement of the entire spine

Aetiology

Developmental abnormality with failure of segmentation occuring during the third to eighth week of intrauterine life & associated with a number of other congenital abnormalities.

Clinically

Classical clinical triad
- Short neck
- Low hairline
- Limitation of neck motion

Associations

scoliosis (60%)
- more than 1/2 of these require treatment
Sprengel's deformity (40%)
Renal anomalies - e.g. horseshoe kidney (35%)
Hearing impairment (30%)
Congenital heart disease (14%)

Motion patterns

Upper cervical spine instability & neurologic problems- most common with upper cervical anomalies e.g. C2-3 fusion
Lower cervical spine degenerative osteoarthritis

X-Rays

Posterior fusion first to be recognised
Flexion extension views best for identifying the fused segment & the site of maximal motion
Vertebral endplates often appear falsely as disc space

Prognosis:

Greater than four fused segments is associated with a higher incidence of problems & instability
Most have minimal symptoms & require no treatment