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Tibial hemimelia

Disease definition

Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.

ORPHA:93322

  • Synonym(s):
    • Congenital absence of tibia
    • Congenital aplasia and dysplasia of the tibia with intact fibula
    • Congenital longitudinal deficiency of the tibia
    • Tibial longitudinal meromelia
  • Prevalence: -
  • Inheritance: Not applicable or Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q72.5
  • OMIM: 275220
  • UMLS: -
  • MeSH: -
  • GARD: 8707
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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