Klippel-Feil Syndrome (KFS): Physiotherapy Management

Klippel-Feil Syndrome (KFS)

Klippel-Feil Syndrome is a rare congenital disorder that occurs during fetal development, involving fusion of two or more cervical vertebrae, leading to reduced flexibility at neck. Commonly involved cervical vertebrae include C2-C3, and C6-C7. Management of Klippel-Feil syndrome typically involves addressing specific symptoms and may include physical therapy, pain management, and, in some cases, surgical interventions to address spinal or other associated issues.

Classification of Klippel-Feil Syndrome

Feil Classification:

1. Type I: fusion of cervical and upper thoracic vertebrae
2. Type II: fusion of only 1 or 2 pairs of cervical vertebrae
3. Type III: cervical fusion in combination with lower thoracic or lumbar fusions

Samartzis Radiographic classification

1. Type I: Single cervical
2. Type II: Multiple noncontiguous segments
3. Type III: Multiple contiguous cervical fusions

Classification based on Spinal Kinematics

1. Type I: C1 fusion with/without more caudal fusion
2. Type II: most rostral C1-3 fusion
3. Type III: isolated fusion caudal to C1-3 is seen
4. Type IV: involves Wildervanck syndrome (also known as cervicooculoacoustic syndrome), Duane syndrome and hearing loss.

 

Symptoms of Klippel-Feil Syndrome (KFS)

• Reduced ROM at neck
• Short neck
• Low hairline
• Scoliosis
• Altered spine kinematics
• Sensory loss seen at neck and spine

 

Causes of Klippel-Feil Syndrome (KFS)

 

Diagnosis of Klippel-Feil Syndrome (KFS)

The clinical diagnosis and assessment process includes various factors like clinical evaluations, imaging studies, and other diagnostic tests.

Clinical Evaluation:

Physiotherapist performs a thorough musculoskeletal examination to assess range of motion, strength, flexibility, and posture. observation and identification of any physical abnormalities or asymmetries in the spine or neck is also crucial.

Functional Assessment:

Physiotherapist assess functional limitation, which includes range of motion and how strength impact the person's mobility and quality of life.

Pain Assessment:

Physiotherapist can assess and manage pain associated with Klippel-Feil syndrome through various techniques such as manual therapy and use of questionnaire or visual analog scale.

Diagnostic Test:

• X-ray – shows fusion and narrowing of vertebrae, spina bifida, scoliosis and sprengel deformity
• CT – shows spinal stenosis and degenerative changes
• MRI - shows Spinal Stenosis, Disc bulge and Herniation along with myelomalacia, syringohydromyelia, diastematomyelia, diplomyelia, and Chiari I malformation.

Collaboration with Medical Professionals:

 Physiotherapists work closely with medical professionals, including orthopedic surgeons, neurologists, and other healthcare providers, to contribute to a comprehensive diagnosis and management plan.

 

Differential Diagnosis

• Cervical Spondylosis
• Congenital Cervical Anomalies
• Scoliosis
• Cervical Disc Herniation
• Torticollis (Congenital Muscular Torticollis)
• Turner Syndrome
• Goldenhar Syndrome
• Spinal Muscular Atrophy (SMA)
• Osteogenesis Imperfecta
• Neurofibromatosis Type 1 (NF1)
• Osteoarthritis of the Cervical Spine
• Rheumatoid Arthritis
• Chiari Malformation
• Postural Abnormalities

 

Physiotherapy Management of Klippel-Feil Syndrome

Physiotherapy management for Klippel-Feil syndrome (KFS) focuses on improving function, minimizing pain, and enhancing the individual's overall quality of life. The specific physiotherapy interventions will vary based on the individual's symptoms, limitations, and goals. Here is a detailed outline of potential physiotherapy strategies for managing Klippel-Feil syndrome:

Patient Education:

Educate the individual about Klippel-Feil syndrome, its impact on musculoskeletal function, and the importance of maintaining good posture. Ergonomic advice is also given to patient to prevention of secondary complication. Counseling of both the parents and child should be conducted to reduce psychosocial stress.

Pain Management:

Implementation of pain management strategies through electrotherapy is effective in reducing pain and muscle spasm.

• Application of heat through heating pad
• Cryotherapy

Range of Motion Exercises:

Prescribe gentle range of motion exercises to maintain or improve flexibility in the affected area. It should be performed within the individual's pain-free range.

• Active ROM exercise for upper limb
• Active ROM neck exercises including rotation, lateral flexion, and extension

Strengthening Exercises:

Perform progressive strengthening exercises to target muscles supporting the spine and improve overall stability. Emphasize on exercises for the core muscles, neck muscles, and those surrounding the shoulder girdle.

• Stretching of sternocleidomastoid
• Strengthening of ulnar deviators
• Scapular retractor and protractors
• Wall push-ups

Soft Tissue Mobilization:

Soft tissue mobilization method is used to recuse muscle spasticity in order to prevent formation of contracture, improve ROM.  Kneading method at medial border of scapula is effective.

Posture Correction:

Provide specific exercises and education to promote proper posture, as individuals with KFS may be prone to compensatory postural changes. Physiotherapist should address muscular imbalances contributing to poor posture.

• strengthening of deep neck flexors
• Strengthening through chain exercises          

Functional Training:

Focus on functional activities that are challenging for the individual, such as activities of daily living (ADLs) and work-related tasks. Develop adaptive strategies to optimize function while minimizing strain on the spine. Emphasize on proper body mechanics during various activities.

Breathing Exercises:

Incorporate breathing exercises to improve respiratory function and promote relaxation.

• Diaphragmatic breathing exercise
• Deep breathing exercise
• Thoracic expansion exercise

Patient-Specific Exercise Programs:

Tailor exercise programs based on the individual's specific needs, goals, and abilities. Adjust the intensity and complexity of exercises over time.

Assistive Devices and Orthotics:

Consider the use of assistive devices or orthotics, such as cervical collars or supportive pillows, to provide additional stability and comfort.

Regular Monitoring and Adjustments:

Periodically reassess the individual's progress and modify the physiotherapy program accordingly. Encourage ongoing self-management through home exercise programs.