Klippel-Feil syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Klippel-Feil syndrome. This is the presence of congenitally fused cervical vertebrae. Fully referenced neurology checklist.
Pathology
- This is the presence of congenitally fused cervical vertebrae
- It may be familial and sporadic
- The mean age of symptom onset is about 20 years
- >60% of cases are asymptomatic
Genetic mutations
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Classification
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Major triad
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Neurological features
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Skeletal features
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Other features
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References
- Samartzis DD, Herman J, Lubicky JP, Shen FH. Classification of congenitally fused cervical patterns in Klippel-Feil patients: epidemiology and role in the development of cervical spine-related symptoms. Spine (Phila Pa 1976) 2006; 31:E798-804.
- Tassabehji M, Fang ZM, Hilton EN, et al. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum Mutat 2008; 29:1017-1027.
- Ye M, Berry-Wynne KM, Asai-Coakwell M, et al. Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum Mol Genet 2010; 19:287-298.
- McGaughran JM, Oates A, Donnai D, Read AP, Tassabehji M. Mutations in PAX1 may be associated with Klippel-Feil syndrome. Eur J Hum Genet 2003; 11:468-474.
- Bayrakli F, Guclu B, Yakicier C, et al. Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype. BMC Genet 2013; 14:95.
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