Klippel-Feil syndrome
Search Strategy[edit | edit source]
Definition/Description[edit | edit source]
The Klippel-Feil syndrome is a congenital anatomical defect in the neck, which includes fusion of two or more cervical vertebrae. [1] This syndrome is also described as congenital brevicollis syndrome. [5]
Feil has classified this syndrome into 3 categories:
Type I = A massive fusion of the cervical spine
Type II = Fusion of 1 or 2 cervical vertebrae
Type III = Type I or II Klippel-feil syndrome with thoracic and lumbar spine anomalies. [2]
Clinically Relevant Anatomy[edit | edit source]
Epidemiology /Etiology[edit | edit source]
The klippel-feil syndrome is caused by a failure of segmentation of the cervical vertebrae during the early weeks of fetal development. [5] There have already been discussed several hypotheses concerning the origin of the abnormality. The following hypotheses are primary vascular disruption, global fetal insult , primary neural tube anomaly, genetic predisposition and at last facet joint segmentation failure. It is also possible that the syndrome is the result of maternal alcoholism, due to fetal alcohol syndrome. [7]
These are just hypotheses. What exactly causes this failure of segmentation is up till now still unknown.
This syndrome is likely to have an incidence between 0.5 - 0.7% of life births, although it is difficult and almost impossible to define the exact incidence and prevalence of klippel-feil syndrome because of the major absence of population screening studies. [3][7]
