Absent radius

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Absent radius is a very rare medical condition in which the radius bone is not developed. This results in a typical position of the arm in which the wrist is plantarflexed and radially deviated.

Classification

The aetiology of radial club hand or radial dysplasia can be divided into "sporadic" and "syndromal" cases.

Sporadic cases are not inherited and are presumed to be due to de novo genetic mutations.

Syndromal cases; certain syndromes have a higher than expected association with radial dysplasia. Typically, organ systems are affected that develop at the same time as the upper limb:

• VACTERL association or VATER syndrome
• Holt-Oram syndrome
• Edwards syndrome
• haematopoietic syndromes:
  • Fanconi anemia
  • 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:
  • radiations
  • valproic acid
  • thalidomide

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