top of page
  • Writer's pictureRobin R Varghese, PT.

"Klippel Feil Syndrome" does not make you insignificant. Don't worry, We got your back.

Updated: Jul 26, 2023


Klippel-Feil syndrome (KFS)

  • Klippel-Feil syndrome (KFS) is a rare skeletal disorder characterized by the congenital fusion of two or more vertebrae of the cervical spine.

  • It is a condition affecting the development of the bones in the spine of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation of the cervical spine vertebrae in the early fetal development.

  • People living with Klippel-Feil syndrome may have a short neck, limited movement and pain.

  • It is usually diagnosed at or near birth through observation.

  • Mild cases may go undiagnosed until later life when symptoms worsen or first become apparent.

  • People with KFS are at risk for severe spinal injury.

How common is Klippel-Feil syndrome (KFS)?


Klippel-Feil syndrome (KFS) happens in about 1 in 40,000 to 42,000 newborns worldwide. It’s slightly more common in females.


Symptoms

These features may be different from person to person. Some people may have more symptoms

than others and symptoms can range from mild to severe.

  • Short neck and the potential for a low hairline at the back of the head

  • Limited flexibility and movement, affecting the face, neck, upper body, and back

  • Pain—The fused vertebrae can cause nerve damage and pain in the head, neck, or back

  • Hearing loss—Sound signals have a hard time getting to the right part of the ear or brain.

  • This can lead to Radiculopathy and/or myelopathy.

Cause

  • No specific causes, but studies highlight that mutations in the GDF6 (growth differentiation factor 6) or GDF3 (growth differentiation factor 3) genes can cause the disorder.

  • KFS may occur as an isolated abnormality (Klippel-Feil anomaly) or as a syndrome with

associated anomalies like:

-abnormal curvature of the spine (scoliosis) and/or vertebral instability, spina bifida occulta,

-absent rib(s) and other rib defects including cervical ribs,

-absent rib(s) and other rib defects including cervical ribs,

-other skeletal abnormalities including skeletal malformations of the ear, nose, mouth and larynx including hearing impairment and cleft palate, malformations of the head and facial (craniofacial) area;

-anomalies of the urinary tract and/or kidney including absent or horse-shoe kidney;

-webbing of the digits and digital hypoplasia.

-Congenital heart defects,

-webbing of the digits and digital hypoplasia.

-neurological complications may result due to associated spinal cord injury.


Classification

KFS may be classified by the degree and location of vertebral fusion.

  1. Type I is a fusion of cervical and upper thoracic vertebrae with synostoses

  2. Type II is an isolated fusion of the cervical spine and

  3. Type III shows fusion of cervical vertebrae associated with lower thoracic or upper lumbar fusion.

Management

  • There are no specific or well defined treatment for KFS.

  • Lifestyle modifications and preventive activities

  • Neck braces and traction may provide some relief in case of any neurological involvement.

  • Spinal deformities and instability requires surgical decision making

  • Physical therapy plays a major role in reducing pain and stiffness.

Physical therapy management


Pt management can not resolve KFS, but helps in relieving the symptoms.

  • Klippel-Feil syndrome remains asymptomatic many times and intervention is given only when symptoms are present.

  • Due to altered biomechanics, hypomobility at one level will be compensated by the hypermobility at the other level of the spine which can lead to secondary complications and functional impairment.

  • Early intervention with physiotherapy will help to maintain the strength and mobility of the joint and prevent secondary degenerative changes.

Goals of physiotherapy

• To reduce pain and stiffness

• To improve mobility and strength

• Maintain correct posture

• Maintain respiratory functions

• Prevent secondary Complications

• To reduce psychosocial stress


Physical therapy approaches that can provide relief to symptoms include:

  • Aquatic therapy

  • Aerobic exercises

  • Low intensity exercises

  • Soft tissue mobilization

  • Mobilization techniques

  • Postural exercises

  • Strengthening exercises

  • Breathing exercises

  • Home exercise programme

  • Counselling patient and parents

At Valley Healing Hands, Brownsville, Texas, we provide the best Physical Therapy for KFS of Klippel Feil Syndrome. Our therapists are highly qualified and very amicable. They will be more than willing to customize the treatment session as per your needs and help you reach your goals without any difficulty. Our patients are extremely satisfied with our services. You may learn about what they had to say about us here and get connected to us here. Our patients love us. You too will!!!



What do researches have to say?

  • More recent studies have shown that GDF6 mutations do not cause KFS but rather they cause multiple synostosis syndrome type 4 (SYSN4) which is very difficult to distinguish from KFS as SYSN4 is both congenital and progressive with vertebral fusion initiated and progressing from a very early age.

  • Cervical Deep muscle Strengthening CDS exercises were effective interventions for reducing neck pain in a patient with Klippel-Feil syndrome.

  • Patients should be guided to minimize activity that can be potentially harmful. If there is no need for surgical correction of associated anomalies, patients with KFS can be treated symptomatically with NSAI medications and physical therapy.


Sources







14 views0 comments

Recent Posts

See All
bottom of page