Orphanet: Fuhrmann syndrome

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Fuhrmann syndrome

Disease definition

Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.


Classification level: Disorder
  • Synonym(s):
    • Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome
    • Fuhrmann-Rieger-de Sousa syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q74.8
  • OMIM: 228930
  • UMLS: C1856728
  • MeSH: C538189
  • GARD: 2410
  • MedDRA: -

Detailed information


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