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Klippel Feil Syndrome

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Other Names

  • KFS
  • Klippel-Feil Syndrome

Background

  • Klippel-Feil Syndrome (KFS) is a congenital disease characterized by fusion of 2 or more cervical vertebrae
    • Often associated with other organ system anomalies

History

  • First described in 1912 by the French physicians Maurice Klippel and Andre Feil[1]

Epidemiology

  • Prevalence and incidence likely underestimated due to heterogeneity in phenotype
  • Incidences are estimated to be approximately 1 of 40,000 to 42,000 births and are seen more frequently in females[2]

Pathophysiology

  • Diagnosis is unified by congenital fusion
    • Other signs are widely heterogeneous
  • Arises from failure of vertebral segmentation in 3rd-8th weeks of gestation[3]
  • May follow autosomal recessive or dominant inheritance pattern with variable penetration[4]

Associated Conditions

  • Craniocervical anomalies
  • Cervical Spine Stenosis
  • Scoliosis, most common seen in 50-70% of patients[5]
  • Kyphoscoliosis
  • Hemivertebrae
  • Syringomyelia
  • Meningocele
  • Extra-axial[6]
    • Urological anomalies (35%–64%),
    • Deafness (30%)
    • Congenital heart disease (14%)
    • Sprengel deformity (30%–42%)
    • Rib anomalies (46%)
    • Torticollis

Risk Factors

  • Genetic
    • SGM1 gene (Chr 8)
    • Notch and Pax genes

Differential Diagnosis

Clinical Features

  • General: Physical Exam Neck
  • History
    • Stiff neck/ poor range of motion
  • Physical Exam
  • Classic triad seen in 50% of patients[7]
    • Low posterior hairline
    • Short neck
    • Decreased cervical range of motion
  • Other findings
    • Scoliosis
    • Torticollis
    • Hearing Loss
    • Jaw anomalies
    • High riding scapula

Evaluation

Radiographs

  • Standard Cervical Spine Radiographs
  • Recommend AP, lateral, odontoid,
  • Findings[8]
    • Basilar invagination (dens elevation(
    • Atlantoaxial Instability
    • Vertebral fusion (fused facets and spinous processes)
    • AP narrowing of the vertebral bodies (wasp-waist sign)
    • Hemivertebrae
    • Omovertebral bone
    • Spina bifida
  • Flexion Extension Radiographs
    • Less movement between fused segments
    • Increased movement between non-fused portions

CT

  • Provides more osseus details
  • Helpful to evaluate
    • Canal stenosis
    • Preoperative planning

MRI

  • Indicated if neuro deficits to evaluate soft tissue structures
  • Cord abnormalities seen in 12% of cases[9]

Classification

  • Proposed classification (not universally accepted)
    • Type I — Fusion of C2 and C3 with occipitalization of the atlas.
    • Type II — Long fusion below C2 with an abnormal occipital-cervical junction.
    • Type III — A single open interspace between two fused segments.

Management

Prognosis

  • No definitive treatment

Nonoperative

  • Primary treatment is aimed at preventative activities
  • Lifestyle modifications
  • Avoid contact and collision sports
  • Consider Cervical Collar for symptom relief
  • Consider cervical spine traction

Operative

Rehab and Return to Play

Rehabilitation

  • Needs to be updated

Return to Play

  • Needs to be updated

Complications

See Also

References

  1. ↑ Klippel M, Feil A. Anomalie de la colonne vertebrale par absence des vertebres cervicales. Cage thoracique remontant jusqua la base du crane. Bull Mem Soc Anat Paris 1912;87:185.
  2. ↑ Corsello G, Carcione A, Castro L, et al. Cervico-oculo-acusticus (Wildervanck) syndrome: a clinical variant of Klippel-Feil sequence? Klin Padiatr 1990;202:176–9.
  3. ↑ Smith BA, Griffin C. Klippel-Feil syndrome. Ann Emerg Med 1992;21:876–9.
  4. ↑ Naikmasur VG, Sattur AP, Kirty RN, et al. Type III Klippel-Feil syndrome: case report and review of associated craniofacial anomalies. Odontology 2011;99:197–202.
  5. ↑ Thomsen MN, Schneider U, Weber M, et al. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I–III. Spine 1997;22:396–401.
  6. ↑ Xue, Xuhong, et al. "Klippel-Feil syndrome in congenital scoliosis." Spine 39.23 (2014): E1353-E1358.
  7. ↑ Hensinger RN, Lang JE, MacEwen GD. Klippel-Feil syndrome. A constellation of associated anomalies. J Bone Joint Surg Am 1974;56:1246–53.
  8. ↑ https://radiopaedia.org/articles/klippel-feil-syndrome-3?lang=us
  9. ↑ Karasick D, Schweitzer ME, Vaccaro AR. The traumatized cervical spine in Klippel-Feil syndrome: imaging features. AJR Am J Roentgenol. 1998;170 (1): 85-8.
Created by:
John Kiel on 12 July 2019 00:22:16
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Last edited:
6 October 2022 23:15:51
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