Updated: 6/24/2021

Klippel-Feil Syndrome

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Evidence
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  • 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
Flashcards (3)
Cards
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Questions (1)

(OBQ11.117) The 10-year-old boy shown in Figures A-B wishes to participate in junior football. A cervical spine CT scan is shown in Figure C. His renal evaluation shows unilateral renal aplasia and his cardiac evaluation is normal. What is his most likely diagnosis and the most appropriate corresponding medical clearance decision for playing football?

QID: 3540
FIGURES:
1

Klippel-Feil syndrome with no participation in contact sports

83%

(3450/4160)

2

Down's syndrome with no participation in contact sports

2%

(103/4160)

3

Holt-Oram syndrome with no participation in contact sports

5%

(217/4160)

4

Down's syndrome with full participation in contact sports only following skeletal maturity

1%

(34/4160)

5

Klippel-Feil syndrome with full participation in contact sports only following skeletal maturity

8%

(329/4160)

L 2 C

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Evidence (11)
EXPERT COMMENTS (10)
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