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Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management
Jody Litrenta1, Andrew S Bi, Joseph W Dryer
1From the Department of Orthopedic Surgery, NYU Langone Orthopedic Hospital, NYU Langone Health, New York, NY.
Summary
Klippel-Feil syndrome (KFS), a congenital fusion of cervical vertebrae, is more common than previously thought, often presenting asymptomatically. Management ranges from observation to surgery, with sports participation depending on fusion severity.
Area of Science:
- Orthopedics
- Genetics
- Developmental Biology
Background:
- Klippel-Feil syndrome (KFS), characterized by congenital fusion of cervical vertebrae, was historically considered rare.
- Recent findings indicate a higher prevalence, with many individuals remaining asymptomatic.
- KFS results from errors in cervical somite segmentation and differentiation during embryonic development, often affecting C2-C3 and C5-C6 levels.
Purpose of the Study:
- To review the current understanding of Klippel-Feil syndrome's prevalence, pathogenesis, associated conditions, and management.
- To highlight the importance of considering KFS in differential diagnoses, even with mild or absent symptoms.
- To provide guidance on management strategies, including surgical interventions and considerations for physical activity.
Main Methods:
- Literature review of recent studies on KFS prevalence and genetics.
- Analysis of KFS pathogenesis, focusing on embryological development.
- Compilation of information on associated orthopedic and visceral conditions.
- Review of existing classification systems for KFS.
- Summary of current management approaches, including observation and surgical options.
Main Results:
- KFS prevalence is likely underestimated, with a significant asymptomatic population.
- Commonly affected vertebral levels are C2-C3 and C5-C6.
- KFS is frequently associated with Sprengel deformity, congenital scoliosis, and other spinal and visceral abnormalities.
- Management strategies are individualized, ranging from observation to complex surgical interventions.
- Recommendations for sports participation are contingent upon the extent of cervical spine fusion.
Conclusions:
- Klippel-Feil syndrome is underdiagnosed, necessitating increased awareness.
- A multidisciplinary approach is crucial for managing complex KFS cases.
- Individualized management plans, considering associated conditions and patient lifestyle, are essential for optimal outcomes.
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