Paeds Elective iSAWE 19

Question

A newborn has a short forearm with the hand deviated radially and an absent thumb.

Paeds Elective iSAWE 19, clinical photograph of the forearm and hand
Clinical photograph of the forearm and hand. Image by AFenrirsLife, Wikimedia Commons, CC BY-SA 4.0.
  1. What is the diagnosis and how is it classified?
  2. Which associated syndromes must be excluded?
  3. Outline treatment.

Answer

Diagnosis

  • Radial longitudinal deficiency (radial club hand)
  • Absent or hypoplastic radius, radial deviation of the hand
  • Thumb hypoplasia almost always present

Bayne and Klug

TypeRadius
IShort distal radius
IIHypoplastic radius
IIIPartial absence (usually distal)
IVComplete absence (most common)

Associated syndromes

  • VACTERL association
  • Holt-Oram syndrome (cardiac septal defects)
  • Thrombocytopenia absent radius (TAR), thumbs present
  • Fanconi anaemia, needs chromosomal breakage test, as bone marrow failure appears later
  • Echocardiogram, renal ultrasound, full blood count

Treatment

  • Stretching and splinting from birth
  • Soft tissue distraction with a frame before centralisation
  • Centralisation or radialisation at about 12 months
  • Ulnar osteotomy to correct bowing
  • Pollicisation of the index finger for absent or Blauth IV and V thumbs
  • Avoid surgery if the elbow is stiff, the hand is needed to reach the mouth

Related pages

Author Contributions

Orthofracs team

Reviewed by Professor Phong Tran, Head of Orthopaedic Surgery, Western Health. Last updated 10 October 2026.