Orphanet: Femoral agenesis/hypoplasia

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Femoral agenesis/hypoplasia

Disease definition

Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.


Classification level: Disorder
  • Synonym(s):
    • Congenital short femur
    • Femoral intercalary meromelia
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q72.4
  • OMIM: -
  • UMLS: C0345375
  • MeSH: -
  • GARD: 1503
  • MedDRA: -
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