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FATCO syndrome

Disease definition

A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated.

ORPHA:2492

Classification level: Disorder
  • Synonym(s):
    • Fibular aplasia-tibial campomelia-oligosyndactyly syndrome
    • Hecht-Scott syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.2
  • OMIM: -
  • UMLS: C2931047
  • MeSH: -
  • GARD: 2622
  • MedDRA: -
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