Orphanet: Femoral hypoplasia unusual facies syndrome

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Femoral-facial syndrome

Disease definition

Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.


Classification level: Disorder
  • Synonym(s):
    • FFS
    • FHUFS
    • Femoral hypoplasia-unusual facies syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 134780
  • UMLS: C0265263
  • MeSH: C537916
  • GARD: 61
  • MedDRA: -
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