Klippel-Feil syndrome is a congenital condition where two or more cervical vertebrae are fused. It is caused by mutations in genes GDF6 and GDF3 which regulate bone growth. People with Klippel-Feil syndrome have a short neck, limited neck movement, and sometimes scoliosis. Diagnosis involves x-rays and MRIs showing fused vertebrae. Treatment focuses on pain management through medications, physical therapy, and sometimes surgery to correct spinal abnormalities.
2. What is Klippel-Feil syndrome ?
The Klippel-Feil syndrome is a congenital anatomical defect in the neck,
which includes fusion of two or more cervical vertebrae.
This syndrome is 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
4. Characteristic Features-There are three characteristic features of Klippel-Feil
Syndrome. Majority of the affected individuals have at least two of the three features
mentioned below.
The three characteristics features are as follows-
• Short neck
• Low hairline behind the neck
• Extremely limited range of motion of the cervical spine.
Range of Motion- People with Klippel-Feil Syndrome have limited range of motion of
the cervical spine due to abnormal fusion of the vertebrae.
Radicular Pain-
• Patient suffers with severe pain. Pain is often caused by pinch nerve at spinal
foramina. Because of this abnormal fusion of the vertebrae of the cervical spine, the
nerves of the neck or back may also be affected.
• As the disease progresses, the affected individuals tend to develop spinal stenosis as
well compressing and damaging the spinal cord.
5. • Motor Nerve Hyperactivity- In rare cases, there may be abnormal
uncontrollable movements of the arms as well.
• Scoliosis- People affected with Klippel-Feil Syndrome also later on in their life
develop scoliosis, a medical condition in which there is abnormal curvature of the
spine.
• Visceral Deformity- The syndrome may be associated with multiple visceral
diseases involving heart, kidneys, skeletal system, vertebral artery anomaly and
neural tube.
• Sprengel Deformity- Some affected individuals may also have a condition called
Sprengel deformity in which there is poor development of the shoulders resulting
in abnormal elevation of the scapula.
6. Signs Of Klippel-Feil Syndrome
• General Examination-
• Extremely short neck
• Low hairline behind the back of head
• Skeletal Examination-
• Limited range of motion of the cervical spine
• Short stature
• Scoliosis
• Spina bifida
• Cleft Palate
7. Visceral Examination-
• Kidney Dysfunction- Higher albumin excretion in urine, high
BUN or creatinine
• Respiratory Difficulties- Wheezing
• Vascular Examination- Vertebral artery anomaly.
• Cardiac Abnormalities- Irregular heart beats and complete heart
block.
• Gastrointestinal System- Duodenal web and rectal abnormalities
were observed with K-F syndrome.
8. What Are The Causes Of Klippel-Feil
Syndrome?
Gene Mutation-
Klippel-Feil Syndrome is said to be caused due to mutations in genes GDF6 and
GDF3.
The function of these genes is to instruct cells into making proteins to regulate growth
and maturation of the bones and cartilages in the body.
The GDF6 protein is required for formation of bones in the limbs, spine, skull, chest,
and ribs. While the exact role of the GDF3 protein is unclear, it is also known to be
involved in development of bones and cartilages.
The mutations of the GDF6 and GDF3 genes result in reduction of functional protein
causing Klippel-Feil Syndrome.
9. How Is Klippel-Feil Syndrome Diagnosed?
Urine Examination- Increased albumen in urine and decreased
urine volume
Blood Examination- Increased BUN and creatinine
Radiological Studies-
X-Ray, MRI and CT Scan-
• Spinal vertebral fusion observed between cervical vertebrae C2 to C5.
• Scoliosis
• Spina Bifida
• Atlanto-axial dislocation
11. Differential Diagnosis
Wildervanck syndrome or cervico-oculo-acoustic 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 Klippel feil syndrome. 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.
12. What Are Treatments For Klippel-Feil
Syndrome?
Klippel–Feil Syndrome is usually treated symptomatically.
Medications For Klippel–Feil Syndrome-
• NSAIDs
• Opioids
• Muscle Relaxants
13. Physical Therapy Management
Klippel-Feil syndrome cannot be resolved with only physical therapy.
physical therapy in combination with non-steroidal medications could be useful to prevent
degenerative changes.
When a patient has several fused vertebrae like in Klippel-Feil syndrome, the risk of
osteoarthritic 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 physical therapy is to prevent or to
delay this damage.
If physical therapy does not work, surgical management is necessary to relieve compression
on the nerve roots
14. Surgery For Klippel–Feil Syndrome
Cervical Vertebral Abnormalities-
• Surgical procedure may also be done to correct craniocervical instability and
remove the pressure over the spinal cord.
• Cervical Disc Arthroplasty is done to correct fusion by using the Bryan Cervical Disc
Prosthesis.
• Total Disc Replacement is an alternative procedure performed to correct foraminal
stenosis. Procedure virtually eliminates the pain and discomfort.
• When Arthroplasty does not provide total relief then as a last measure arthrodesis
procedure is done for pain relief from Klippel-Feil Syndrome.
Scoliosis-
• The corrective procedure is performed if patient has advanced symptoms
suggesting numbness and weakness in upper and lower extremities.
• Surgical procedures may also include spinal surgery to relieve pressure on the
spinal cord.