Orphanet: Fibular aplasia ectrodactyly syndrome
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Fibular aplasia-ectrodactyly syndrome

Disease definition

A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additonal variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects.

ORPHA:1118

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q73.8
  • OMIM: 113310
  • UMLS: C1862100
  • MeSH: C537930
  • GARD: 2331
  • MedDRA: -
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