Klippel Feil Syndrome
- 1 Other Names
- 2 Background
- 3 Pathophysiology
- 4 Risk Factors
- 5 Differential Diagnosis
- 6 Clinical Features
- 7 Evaluation
- 8 Classification
- 9 Management
- 10 Rehab and Return to Play
- 11 Complications
- 12 See Also
- 13 References
- Klippel-Feil Syndrome
- Klippel-Feil Syndrome (KFS) is a congenital disease characterized by fusion of 2 or more cervical vertebrae
- Often associated with other organ system anomalies
- First described in 1912 by the French physicians Maurice Klippel and Andre Feil
- 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
- Diagnosis is unified by congenital fusion
- Other signs are widely heterogeneous
- Arises from failure of vertebral segmentation in 3rd-8th weeks of gestation
- May follow autosomal recessive or dominant inheritance pattern with variable penetration
- Craniocervical anomalies
- Cervical Spine Stenosis
- Scoliosis, most common seen in 50-70% of patients
- Urological anomalies (35%–64%),
- Deafness (30%)
- Congenital heart disease (14%)
- Sprengel deformity (30%–42%)
- Rib anomalies (46%)
- SGM1 gene (Chr 8)
- Notch and Pax genes
- Subluxations and Dislocations
- Muscle and Tendon
- Pediatric/ Congenital
- Other Etiologies
- General: Physical Exam Neck
- Stiff neck/ poor range of motion
- Physical Exam
- Classic triad seen in 50% of patients
- Low posterior hairline
- Short neck
- Decreased cervical range of motion
- Other findings
- Hearing Loss
- Jaw anomalies
- High riding scapula
- Standard Cervical Spine Radiographs
- Recommend AP, lateral, odontoid,
- Basilar invagination (dens elevation(
- Atlantoaxial Instability
- Vertebral fusion (fused facets and spinous processes)
- AP narrowing of the vertebral bodies (wasp-waist sign)
- Omovertebral bone
- Spina bifida
- Flexion Extension Radiographs
- Less movement between fused segments
- Increased movement between non-fused portions
- Provides more osseus details
- Helpful to evaluate
- Canal stenosis
- Preoperative planning
- Indicated if neuro deficits to evaluate soft tissue structures
- Cord abnormalities seen in 12% of cases
- 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.
- No definitive treatment
- Primary treatment is aimed at preventative activities
- Lifestyle modifications
- Avoid contact and collision sports
- Consider Cervical Collar for symptom relief
- Consider cervical spine traction
- surgical decompression and fusion
Rehab and Return to Play
- Needs to be updated
Return to Play
- Needs to be updated
- 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.
- 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.
- Smith BA, Griffin C. Klippel-Feil syndrome. Ann Emerg Med 1992;21:876–9.
- 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.
- 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.
- Xue, Xuhong, et al. "Klippel-Feil syndrome in congenital scoliosis." Spine 39.23 (2014): E1353-E1358.
- Hensinger RN, Lang JE, MacEwen GD. Klippel-Feil syndrome. A constellation of associated anomalies. J Bone Joint Surg Am 1974;56:1246–53.
- 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.