Klippel-Feil syndrome is the result of fusion of one or more of the cervical vertebrae. It can cause shortening of the neck, with limited movements. There is bilateral failure of scapular descent.
A fused bar on just one side can cause a major scoliosis of the neck, as the contralateral side grows normally.
A compressive cervical myelopathy can result in later life from spondylosis at the mobile joints above and below the fusion. Rapid rotatory movements of the head may sometimes result in syncope.
This syndrome may be associated with deafness and radial dysplasia.
Sufferers usually have short necks and a low hairline.
Inheritance may be autosomal dominant or autosomal recessive. Chromosome 8 is the site of the suspected genetic defect responsible for development of this syndrome.
Last reviewed 01/2018