What is Klippel-Feil syndrome?
Klippel-Feil syndrome is a congenital disorder of the cervical spine in which there is fusion of two or more vertebrae. People from Klippel-Feil syndrome tend to have a short neck and their neck motion is significantly restricted. There may also be presence of pain in the neck.
Klippel-Feil syndrome is classified into 3 types:
Type I: The first cervical vertebrae is also known as atlas is fused with occipital bone and the condition is known as occipitalization of atlas. Type I is also associated with fusion of C2-C3 vertebra. Severe malformation may result in narrowing of spinal canal and compression of spinal cord and brainstem.
Type II: In this type, there is fusion of the vertebrae below C2 level along with abnormality of the occipitocervical junction.
Type III: In this type, there is a single interspace between two fused segments and the motion of the cervical spine is centered at this solitary open articulation. This can lead to spine instability or osteoarthritis.
How common is Klippel-Feil syndrome?
Klippel-Feil syndrome is estimated to occur in 1 in 40,000 to 42,000 newborns worldwide. Females seem to be affected slightly more often than males. Please discuss with your doctor for further information.
What are the symptoms of Klippel-Feil syndrome?
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.
Patients of Klippel-Feil syndrome also suffer from severe pain. Pain is often caused by pinch nerve at spinal foramina. As the disease progresses, the affected individuals tend to develop spinal stenosis as well compressing and damaging the spinal cord.
In rare cases, there may be abnormal uncontrollable movements of the arms as well.
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.
The syndrome may be associated with multiple visceral diseases involving heart, kidneys, skeletal system, vertebral artery anomaly and neural tube.
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.
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
Signs of Klippel-Feil syndrome
- Extremely short neck
- Low hairline behind the back of head
- Limited range of motion of the cervical spine
- Short stature
- Spina bifida
- Cleft palate.
- 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
When should I see my doctor?
If you or your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
What causes Klippel-Feil syndrome?
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.
What increases my risk for Klippel-Feil syndrome?
Please consult with your doctor for further information.
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How is Klippel-Feil syndrome diagnosed?
Klippel-Feil syndrome can be diagnosed using:
- 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.
- Spina Bifida
- Atlanto-axial dislocation
How is Klippel-Feil syndrome treated?
Klippel-Feil syndrome is usually treated symptomatically.
Medications For Klippel-Feil syndrome:
- Muscle Relaxants
Interventional pain therapy
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.
- 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.
Lifestyle changes & home remedies
What are some lifestyle changes or home remedies that can help me manage Klippel-Feil syndrome?
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Klippel-Feil Syndrome https://rarediseases.org/rare-diseases/klippel-feil-syndrome/ Accessed March 9, 2018
Klippel-Feil syndrome https://ghr.nlm.nih.gov/condition/klippel-feil-syndrome#diagnosis Accessed March 9, 2018
Klippel-Feil Syndrome https://www.orthobullets.com/spine/2051/klippel-feil-syndrome Accessed March 9, 2018
Klippel-Feil Syndrome: Causes, Classification, Symptoms, Signs, Diagnosis, Treatment https://www.epainassist.com/bones/klippel-feil-syndrome Accessed March 9, 2018
Review Date: March 9, 2018 | Last Modified: March 9, 2018