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Tibial aplasia-ectrodactyly syndrome

Disease definition

Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.

ORPHA:3329

  • Synonym(s):
    • Aplasia of tibia with split-hand/split-foot deformity
    • SHFLD syndrome
    • SHFM associated with aplasia of long bones
    • Split hand/foot malformation with long bone deficiency
    • Split-hand/foot malformation associated with aplasia of long bones
    • TH-SHFM
    • Tibial hemimelia with split hand/foot malformation
    • Tibial hemimelia-ectrodactyly syndrome
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q73.8
  • OMIM: 119100  610685  612576
  • UMLS: C1861553
  • MeSH: -
  • GARD: 1369
  • MedDRA: -
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