Klippel-Feil Syndrome

Dr. Dibyendunarayan Bid
MPT, PGDSPT, PhD
Sarvajanik College of Physiotherapy, Surat

 The Klippel-Feil syndrome is a congenital anatomical
defect in the neck, which includes fusion of two or
more cervical vertebrae.
 Also described as congenital brevicollis syndrome.
 Feil has classified this syndrome into 3 categories:
 Type I = A massive fusion of the cervical spine
 Type II = Fusion of 1 or 2 cervical vertebrae
 Type III =Type I or II Klippel-Feil syndrome with thoracic
and lumbar spine anomalies

 The KFS is caused by a failure of segmentation of the
cervical vertebrae during the early weeks of fetal
development.
 There are several hypotheses concerning the origin of the
abnormality.
 Like: primary vascular disruption, global fetal insult ,
primary neural tube anomaly, genetic predisposition and
at last facet joint segmentation failure.
 It is also possible that the syndrome is the result of
maternal alcoholism, due to fetal alcohol syndrome.

 These are just hypotheses.
 What exactly causes this failure of
segmentation is up till now still unknown.
 This syndrome is likely to have an incidence
between 0.5 - 0.7% of life births.

 People with Klippel-Feil in general appear to have a
“short neck” with a low hairline due to the fusion of
several cervical vertebrae.
 Together with this short neck, there are skin folds
passing to the shoulders, due to the fusion of the
cervical spine.
 Because of the fusion there is also a decreased
mobility in the neck.
 Particularly side-to-side movements and rotational
movements are difficult to execute.

 Flexion and extension
movements are also limited,
but less severe.
 This decreased range of
motion is the most frequent
clinical presentation.
 Less than 50% of the patients
with Klippel-Feil syndrome
have all three of these signs.

 It is possible that complications occur by injury of the
spinal cord.
 Symptoms are numbness, paresthesia, spasticity or
paralysis.
 These complication can occur in a person with Klippel-
Feil syndrome by a minor fall, stumble or knock.
 This syndrome can also lead to chronic symptoms like
neck- and extremity pain, weakness, ataxia,
headaches, vision – or hearing problems and vertigo.

 Patients with type II KFS are likely to have an
increased curvature develop of the spine in the
sagittal plane.
 Patients with type I and III have a higher risk for
development of scoliosis.
 Torticollis or facial asymmetry can occur in 21-50% of
the patients with KFS.
 It is important to make a differential diagnosis
between congenital muscular torticollis and Klippel-
Feil syndrome.

 To differentiate these two,
radiographic plains have to be made,
but in little children it is hard to do so,
especially of the craniocervical
junction.
 Anomalies of the craniocervical
junction could cause instability at
lower segments.

 Several studies showed that the syndrome can
present with other clinical symptoms.
 These are the following:
 Goldenhar syndrome,
 anomalies of the extremities,
 scoliosis, torticollis,
 facial nerve paralysis,
 Chiari I malformation, Syringohydromyelina,
 High-arched palate and
 Duane’s contracture of the lateral rectus muscle.

 Between 30 and 60% of patients with KFS have
genito-urinary problems.
 These problems are mainly situated at the level of
the kidneys.
 These patients could have a unilateral renal
agenesis, mal-rotation of the kidney, ectopic kidney,
horseshoe kidney and renal pelvic and ureteral
duplication.

 Besides kidney problems these patients can also
present with genital abnormalities.
 Unilateral renal agenesis is the most common
anomaly among patients with KFS.

 Wildervanck syndrome or cervico-oculo-acoustic
syndrome.
 Patients with KFS can present with deafness, so it is important
to differentiate the KFS with the Wildervanck syndrome.
 Congenital scoliosis - Numerous patients with KFS are
likely to have congenital scoliosis.
 KFS is mostly discovered when patients undergo
radiography for scoliosis.
 Postinfection/ spine inflammatory disorders due to
acquired spinal fusion.

 Mayer-Rokitansky-Kaster-syndrome
 Torticollis - It is important to make a differential diagnosis
between muscular congenital torticollis and KFS.
 More than 20% of the patients with KFS present with
Torticollis.
 Sprengel’s deformity - Exists in 16 % of patients with KFS,
but can also present without KFS. So it must be verified if a
patient with Sprengel’s deformity also presents with KFS.

 Patients with KFS have a cervical deformation at birth, but
are usually diagnosed at later age.
 Some patients are diagnosed while undergoing radiography
for other reasons related or even not related to this
syndrome.
 This syndrome is usually diagnosed when the presentation of
complaints occur.
 The most important complaints are pain and neurologic
symptoms.

 Neurologic exams are designated when
neurologic symptoms appear.
 In addition, Radiographic evaluation is
necessary to determine the diagnosis of KFS.
 Spinal fusion can be documented by plain
films and CT-scans, only with combined
myelo-CT or rather a MRI.

 An MRI including flexion and extension MRI is
designated when complaints of instability and/or
spinal stenosis (LINK) appear.
 Instability associated with an adjacent fused
segment can be tested with translation of the
vertebral corpus on another.
 Pseudoluxation of C2 on C3 or C3 on C4 is a normal
phenomenon in children with KFS younger than the
age of 8 years.

 MRI can give valuable information about the space
available for the spinal cord, determination of spinal
stenosis caused by the deformation, and CSN
abnormalities like; Syrinx, tethered cord, or
diastomyelia.
 It is also used to determine if the cervical
malformation compresses the brain, brainstem or
the spinal cord.

 The clinical presentation of KFS is varied because of
the different associated syndromes and anomalies
that can occur in patients with this syndrome.
 In children in particular, the classic clinical triad of
manifestations (see Background) may not all be
present.
 A complete history and careful physical examination
may reveal some associated anomalies. From an
orthopedic standpoint, most of the workup involves
imaging.

 Klippel-Feil syndrome is
detected throughout life,
often as an incidental
finding.
 Patients with upper cervical
spine involvement tend to
present at an earlier age than
those whose involvement is
lower in the cervical spine.

 Most patients present with a short neck and decreased
cervical range of motion (ROM), with a low hairline
occurring in 40-50% of cases.
 Decreased ROM is the most frequent clinical finding.
Rotational loss usually is more pronounced than is the loss
of flexion and extension.
 Other patients present with torticollis or facial asymmetry.
 In very young children, it is important to differentiate
congenital muscular torticollis from Klippel-Feil syndrome.

 It is often difficult to obtain good plain radiographs
of young children with torticollis, especially
radiographs of the craniocervical junction.
 Neurologic problems may develop in 20% of
patients. Gray found that 27% developed symptoms
in the first decade.

 Occipitocervical
abnormalities were the
most common cause of
neurologic problems.
 Some patients present
with pain.

 The most frequent indications for surgical treatment of
KFS depend on the amount of deformity, its location,
and its progression with time.
 Other indications include instability of the cervical spine
and/or neurologic problems.
 These indications can occur with craniocervical junction
anomalies and when two fused segments are separated
by a normal segment.

 Some patients present early in life with
complex cervical and cervicothoracic
deformity that is progressive and disfiguring.
 Some of these patients require cervical spine
fusions to prevent progression.

 Other patients may develop compensatory or
associated congenital scoliosis, which also can be
progressive over time and requires fusion to prevent
progressive deformity.
 Treatment of the scoliosis with bracing or surgery
was required in 18 of the 50 patients.
 Surgical treatment of KFS is indicated in a variety of
situations.

 As a result of fusion anomalies and the difference in
growth potential of the anomalous vertebral bodies,
deformity may be progressive.
 Instability of the cervical spine can develop because of
craniocervical abnormalities.
 Instability of the cervical spine can also develop
between two sets of fusion anomalies separated by a
normal segment.
 Neurologic deficits and persistent pain are indications
for surgery.

 Development of a compensatory curve in the thoracic
spine may require surgical intervention or bracing.
 Symptomatic spinal stenosis may require
decompression and fusion.
 Preoperatively, patients must have a comprehensive
workup to detect the various anomalies that may be
present.
 Adequate imaging studies must be obtained.Three-
dimensional (3D) computed tomography (CT)
reconstruction often is useful.

 KFS cannot be resolved with physiotherapy.
 Nevertheless physiotherapy in combination with non-
steroidal medications could be useful to prevent
degenerative changes.
 When a patient has several fused vertebrae like in
KFS, the risk of OA changes is increased because of
the immobile joint.
 It is likely that the superior joint undergoes
degenerative changes with formation of osteophytes.

 This can lead to Radiculopathy and/or myelopathy,
therefore the goal of physiotherapy is to prevent or
to delay this damage.
 If physiotherapy does not work, surgical
management is necessary to relieve compression on
the nerve roots.

Klippel-Feil Syndrome

More Related Content

Klippel-Feil Syndrome