Klippel-Feil syndrome is characterised by the fusion of vertebrae into bony blocks. Vertebral fusion restricts the movement of the neck and spine and may progress in latter life. Different forms of KFS may progress at different rates.
KFS has a constellation of associated anomalies of the spine, ears, mouth, throat, larynx, face, head and organs that can exacerbate the condition.
The early classification of KFS has been upgraded to reflect genetic heterogeneity (Clarke et al 1998). The 1st gene for KFS (GDF6) has now been identified by the international collaboration led by Dr Raymond Clarke. During embryogenesis GDF6 is expressed in discrete stripes that define the integrity and flexibility of joints including intervertebral joints, carpal and tarsal joints, middle ear joints and within the thyroid and cricoid cartilage and vocal folds of the larynx. The anatomical sites of cartilage/tendon and joint anomalies manifest in KFS precisely correspond with the tissue restricted sites of GDF6 expression during development. This precise correspondence suggests a broad range of GDF6 loss of function skeletal anomalies in KFS.
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