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Updated: Jun 24 2021

Klippel-Feil Syndrome

Images feil.jpg
  • Summary
    • Klippel-Fiel Syndrome is a rare congenital condition caused by failure of normal segmentation or formation of cervical somites during embryological development that leads to abnormalities in multiple cervical segments.
    • Diagnosis is made from physical examination, medical history and imaging findings including congenital fusion of 2 or more cervical vertebrae.
    • Treatment is usually observation with restriction of contact sports if the anomaly extends proximal to C2. Surgical management is indicated in the presence of myelopathy, basilar invagination, or atlantoaxial instability.
  • Etiology
    • Pathophysiology
      • mechanism
        • due to failure of normal segmentation or formation of cervical somites at 3-8 weeks' gestation
    • Genetics
      • SGM1 gene (Chr 8)
      • Notch and Pax genes
    • Associated conditions
      • orthopedic conditions
        • congenital scoliosis
        • Sprengel's deformity (30%)
      • medical conditions & comorbidities
        • renal disease (aplasia in 33%)
        • auditory issues (deafness in 30%)
        • congenital heart disease/cardiovascular (15-30%)
        • brainstem abnormalities/basilar invagination
        • congenital cervical stenosis
          • MRI to rule out intraspinal cord abnormalities
        • atlantoaxial instability (~50%)
        • adjacent level disease (100%)
          • degeneration of adjacent segments of cervical spine that has not fused is common due to increased stress
  • Classification
    • KFS classification
      • KFS classification
      • Type I
      • Extensive fusion of most or all of the cervical spine
      • Type II
      • Fusion or only 1 or 2 vertebrae in the cervical spine
      • Type III
      • Fusion exists in part of the thoracic and/or lumbar spine, in addition to Type I or Type II KFS
    • Despite this original classification, none is widely accepted
      • extent and locations of fusions is important
        • fusions above C3
          • more likely to be symptomatic and require abstaining from contact sports
        • fusions below C3
          • less likely to be symptomatic and most likely to have a normal life span
  • Presentation
    • Symptoms
      • stiff neck
    • Physical exam
      • inspection
        • classic triad (seen in fewer than 50%)
          • low posterior hairline
          • short webbed neck
          • limited cervical ROM
        • other findings
          • high scapula (Sprengel Deformity)
          • jaw anomalies
          • partial loss of hearing
          • torticollis
          • scoliosis
  • Imaging
    • Radiographs
      • recommended views
        • AP, lateral, and odontoid views
      • findings
        • fusion
          • may be craniocervical (occiput to C2), subaxial, or both
        • basilar invagination
          • is seen on lateral view
          • defined as dens elevation above McRae's line
        • atlantoaxial instability
          • is present when the atlanto dens interval (ADI) is >5 mm
          • cervical spinal canal stenosis is seen when spinal cord canal <13 mm
        • degnerative changes
          • degnerative disease of the cervical spine is seen in 100%
        • calcifications
          • calcifications may be seen within the intervertebral space
            • resolution within 6 months is common
  • Differential
    • congenital scoliosis
    • postinfection/spine inflammatory disorders
    • Mayer-Rokitansky-Kaster syndrome
    • Sprengel's deformity
  • Treatment
    • Nonoperative
      • observation with ability to participate in contact/collision sports
        • indications
          • asymptomatic patients with fusions of 1-2 disc spaces below C3
      • observation and abstain from contact/collision sports
        • indications
          • asymptomatic patients with fusion involving C2
            • most common presentation
          • long fusions
        • modalities
          • counseling important to avoid activities that place the neck at high risk of injury
            • contact sports, gymnastics, football, wrestling, trampoline, etc
    • Operative
      • surgical decompression and fusion
        • indications
          • basilar invagination
          • chronic pain
          • myelopathy
          • associated atlantoaxial instability
          • adjacent level disease if symptomatic
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