Klippel-Feil Syndrome
Klippel-Feil Syndrome (KFS)
Definition
Klippel-Feil Syndrome is a rare congenital condition characterized by the fusion of two or more cervical vertebrae, resulting from failed segmentation of cervical somites during embryonic development.
Epidemiology
- Incidence: 1 in 40,000-42,000 births
- Female predominance (65-70%)
- Most cases are sporadic
- Can be inherited (autosomal dominant, autosomal recessive, X-linked)
Genetic Associations
- GDF6 gene mutations (autosomal dominant)
- GDF3 gene mutations
- MEOX1 gene mutations (autosomal recessive)
- PAX1 gene mutations
Classification Systems
Traditional Feil Classification
- Type I:
- Massive fusion of cervical and upper thoracic vertebrae
- Extensive fusion into large blocks
- Worst prognosis
- Type II:
- Fusion of one or two vertebral pairs
- Most common type (40-50%)
- Better prognosis
- Type III:
- Cervical fusion with lower thoracic or lumbar fusion
- Combination of cervical and lower spine abnormalities
- Type IV (Added Later):
- Cervical fusion with sacral agenesis
- Rarest form
Clinical Manifestations
Classic Triad
- Short neck
- Low posterior hairline
- Limited neck mobility
Note: Classic triad present in only 40-50% of cases
Associated Anomalies
- Skeletal System:
- Scoliosis (60%)
- Sprengel deformity (30%)
- Rib anomalies
- Torticollis
- Neurological:
- Syringomyelia
- Arnold-Chiari malformation
- Spina bifida
- Cardiovascular (4-14%):
- Ventricular septal defects
- Patent ductus arteriosus
- Coarctation of aorta
- Genitourinary:
- Renal agenesis
- Horseshoe kidney
- Hypospadias
- Other Systems:
- Hearing impairment (30%)
- Facial asymmetry
- Cleft palate
- Eye abnormalities
Diagnostic Approach
Clinical Evaluation
- Detailed physical examination
- Neurological assessment
- Range of motion testing
- Assessment for associated anomalies
Imaging Studies
- Radiographs:
- Cervical spine (AP, lateral, flexion-extension)
- Full spine assessment
- Assessment for instability
- MRI:
- Evaluation of neural structures
- Assessment of syringomyelia
- Cord compression evaluation
- CT Scan:
- Detailed bone anatomy
- Surgical planning
Additional Investigations
- Echocardiogram
- Renal ultrasound
- Audiometry
- Genetic testing
Treatment Approach
Conservative Management
- Physical Therapy:
- Range of motion exercises
- Strengthening exercises
- Posture training
- Regular Monitoring:
- Growth assessment
- Neurological monitoring
- Spine surveillance
Surgical Indications
- Cervical instability
- Progressive neurological deficits
- Severe scoliosis
- Spinal cord compression
Surgical Options
- Spinal fusion
- Decompression procedures
- Correction of associated deformities
- Post-operative rehabilitation
Long-term Care
- Multidisciplinary approach
- Regular follow-up
- Prevention of complications
- Genetic counseling
- Psychological support
