Aetiology

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