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Aetiology

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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The aetiology of radial club hand or radial dysplasia can be divided into:

  • sporadic cases, which are not inherited and are presumed to be due to de novo genetic mutations
  • syndromic cases; certain syndromes have a higher than expected association with radial dysplasia. Typically, organ systems that develop at the same time as the upper limb are affected:
    • VACTERL or VATER Syndrome
    • Holt-Oram Syndrome
    • haemopoietic syndromes:
      • Fanconi's anaemia
      • Thrombocytopaenia with Absent Radius (TAR Syndrome)
    • craniofacial syndromes:
      • Nager's Syndrome
      • Goldenhar's Syndrome
      • Mobius Syndrome
      • cleft lip and palate
      • Treacher-Collins Syndrome
    • skeletal syndromes and isolated skeletal associations:
      • Klippel-Feil Syndrome
      • Sprengel deformity
      • syndactyly
      • scoliosis
  • teratogens:
    • radiation
    • valproic acid
    • thalidomide

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