Klippel-Feil syndrome
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Klippel-Feil syndrome (KFS) is a complex heterogenous entity that results in cervical vertebral fusion. Two or more non-segmented cervical vertebrae are usually sufficient for diagnosis 1.
Epidemiology
There is a recognised female predilection 1. KFS has an incidence of 1:40-42 000 4.
Pathology
It is believed to result from faulty segmentation along the embryo’s developing axis during the 3rd to 8th weeks of gestation.
Associations
- Sprengel deformity of the shoulder (see image)
- Wildervanck syndrome
- anomalies of the aortic arch and branching vessels, e.g. carotid, subclavian arteries
- spinal scoliosis
- intervertebral disc herniation 2
- cervical spondylosis 2
- renal abnormalities
-, e.g. unilateral renal agenesis 4
Classification
KFS has been classified into three types depending on the extent and location of vertebral fusion as well as associated vertebral abnormalities 4:
-
Type I:
- fusionfusion of many cervical and upper thoracic vertebrae -
Type II:
- fusionfusion of two or three vertebrae with associated hemivertebrae, occipito-atlantoid fusion or other cervical spine abnormalities -
Type III:
- cervicalcervical fusion with lower thoracic or lumbar vertebral fusion
Radiographic features
Plain film
Verterbal images may show a wasp-waist sign.
More content required
EtymologyHistory and etymology
Originally described by Maurice Klippel and Andre Feil in 1912 4 with patients having a triad of:
- short neck
- low posterior hair line
- limited range of motion
However the classic dinicalclinical triad of a short neck, low hairline, and restricted neck motion is considered to be present in less than 50% of patients with this syndrome.
-<p><strong>Klippel-Feil syndrome (KFS)</strong> is a complex heterogenous entity that results in cervical vertebral fusion. Two or more non-segmented cervical vertebrae are usually sufficient for diagnosis <sup>1</sup>.</p>-<h4>Epidemiology</h4>-<p>There is a recognised female predilection <sup>1</sup>. KFS has an incidence of 1:40-42 000 <sup>4</sup>.</p>-<h4>Pathology</h4>-<p>It is believed to result from faulty segmentation along the embryo’s developing axis during the 3<sup>rd</sup> to 8<sup>th </sup>weeks of gestation. </p>-<h5>Associations</h5>-<ul>-<li>-<a title="Sprengel deformity" href="/articles/sprengel-deformity">Sprengel deformity</a> of the shoulder (see image)</li>-<li><a title="Wildervanck syndrome" href="/articles/wildervanck_syndrome">Wildervanck syndrome</a></li>-<li>anomalies of the aortic arch and branching vessels, e.g. <a title="Common carotid artery" href="/articles/common-carotid-artery-2">carotid</a>, <a title="subclavian artery" href="/articles/subclavian-artery">subclavian</a> arteries</li>-<li><a title="spinal scoliosis" href="/articles/spinal-scoliosis">spinal scoliosis</a></li>-<li>-<a title="spinal scoliosis" href="/articles/spinal-scoliosis"></a>intervertebral disc herniation <sup>2</sup>-</li>-<li>cervical spondylosis <sup>2</sup> </li>-<li>renal abnormalities - e.g. unilateral renal agenesis <sup>4</sup>-</li>- +<p><strong>Klippel-Feil syndrome (KFS)</strong> is a complex heterogenous entity that results in cervical vertebral fusion. Two or more non-segmented cervical vertebrae are usually sufficient for diagnosis <sup>1</sup>.</p><h4>Epidemiology</h4><p>There is a recognised female predilection <sup>1</sup>. KFS has an incidence of 1:40-42 000 <sup>4</sup>.</p><h4>Pathology</h4><p>It is believed to result from faulty segmentation along the embryo’s developing axis during the 3<sup>rd</sup> to 8<sup>th </sup>weeks of gestation.</p><h5>Associations</h5><ul>
- +<li>
- +<a href="/articles/sprengel-deformity">Sprengel deformity</a> of the shoulder (see image)</li>
- +<li><a href="/articles/wildervanck-syndrome">Wildervanck syndrome</a></li>
- +<li>anomalies of the aortic arch and branching vessels, e.g. <a href="/articles/common-carotid-artery-2">carotid</a>, <a href="/articles/subclavian-artery">subclavian</a> arteries</li>
- +<li><a href="/articles/spinal-scoliosis">spinal scoliosis</a></li>
- +<li>intervertebral disc herniation <sup>2</sup>
- +</li>
- +<li>cervical spondylosis <sup>2</sup> </li>
- +<li>renal abnormalities, e.g. unilateral renal agenesis <sup>4</sup>
- +</li>
-<li>-<strong>Type I </strong>- fusion of many cervical and upper thoracic vertebrae</li>-<li>-<strong>Type II</strong> - fusion of two or three vertebrae with associated <a href="/articles/hemivertebra" title="Hemivertebrae">hemivertebrae</a>, occipito-atlantoid fusion or other cervical spine abnormalities</li>-<li>-<strong>Type III </strong>- cervical fusion with lower thoracic or lumbar vertebral fusion</li>-</ol><h4>Radiographic features</h4>-<h5>Plain film</h5>-<p>Verterbal images may show a <a title="Wasp-waist sign" href="/articles/wasp-waist-sign">wasp-waist sign</a>.</p>-<p><em>More content required</em></p>-<h4>Etymology</h4>-<p>Originally described by <strong>Maurice Klippel</strong> and <strong>Andre Feil</strong> in 1912 <sup>4</sup> with patients having a triad of:</p>-<ol>-<li>short neck</li>-<li>low posterior hair line</li>-<li>limited range of motion</li>-</ol><p>However the classic dinical triad of a short neck, low hairline, and restricted neck motion is considered to be present in less than 50% of patients with this syndrome. </p>- +<li>
- +<strong>Type I:</strong> fusion of many cervical and upper thoracic vertebrae</li>
- +<li>
- +<strong>Type II:</strong> fusion of two or three vertebrae with associated <a href="/articles/hemivertebra">hemivertebrae</a>, occipito-atlantoid fusion or other cervical spine abnormalities</li>
- +<li>
- +<strong>Type III:</strong> cervical fusion with lower thoracic or lumbar vertebral fusion</li>
- +</ol><h4>Radiographic features</h4><h5>Plain film</h5><p>Verterbal images may show a <a href="/articles/wasp-waist-sign">wasp-waist sign</a>.</p><p><em>More content required</em></p><h4>History and etymology</h4><p>Originally described by <strong>Maurice Klippel</strong> and <strong>Andre Feil</strong> in 1912 <sup>4</sup> with patients having a triad of:</p><ol>
- +<li>short neck</li>
- +<li>low posterior hair line</li>
- +<li>limited range of motion</li>
- +</ol><p>However the classic clinical triad of a short neck, low hairline, and restricted neck motion is considered to be present in less than 50% of patients with this syndrome.</p>
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