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Isolated Klippel-Feil syndrome

Disease definition

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

ORPHA:2345

  • Synonym(s):
    • Congenital cervical vertebral fusion
    • Congenital fused cervical segments
    • Klippel-Feil malformation
    • Klippel-Feil sequence
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Autosomal recessive or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q76.1
  • OMIM: 118100  214300  613702
  • UMLS: C0022738
  • MeSH: -
  • GARD: 10280
  • MedDRA: -

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