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Isolated Klippel-Feil syndrome

ORPHA:2345· ICD-10 Q76.1

Definition

Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

Prevalence
1-9 / 100 000
Inheritance
Autosomal dominant, Autosomal recessive, Not applicable
Age of onset
Antenatal, Infancy, Neonatal