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Klippel-Feil syndrome

Background

Klippel-Feil syndrome is a rare disorder caused by failure of the division of the bones in the cervical (neck) section of the spinal column during embryonic development. Presentation may occur at any time of life and due to its variable nature it may be an incidental finding when a patient is being investigated for another reason.

Three types of Klippel-Feil syndrome have been described and these depend upon the number of vertebrae joined together and whereabouts in the spine they are joined.

Type I involves fusion of a number of bones in the neck and the upper part of the back resulting in the formation of bony blocks.

Type II is the commonest type of Klippel-Feil syndrome and involves the whole spine from the neck down to the low back. Commonly, two or three bones are joined together, but there may also be some abnormally shaped vertebrae such as hemi-vertebrae (this means the absence of half a bone).

Type III involves almost the whole of the spine from the neck down to the lower back.

What are the symptoms? View What are the symptoms?

Medical text written October 2002 by Contact a Family. Approved October 2002 by Dr K Metcalfe, Consultant Clinical Geneticist, St Mary's Hospital, Manchester, UK. Last updated October 2009 by Dr K Leask, Specialist Registrar in Clinical Genetics, St Mary's Hospital, Manchester, UK.

 

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