Radial hemimelia

Case contribution: Dr Radhiana Hassan


  • A 2 years old girl
  • Underlying VACTERL syndrome
  • Imperforate anus and single kidney
  • Correction done for imperforate anus
  • Referred for left upper limb deformity
  • Clinically has shortened left forearm, absent thumb with supple wrist joint. Able to flex elbow but weak grip.
Radiograph of radius ulna in AP view

Radiographic findings:

  • Absent left radius with four digits (yellow arrows).
  • The left ulna is shorter length with coarse trabecular pattern particularly at its diaphysis. Radial deviation of left hand.
  • Left capitellum ossification centre is present but small in size (in comparison to the normal right elbow).
  • Normal ossification centre of both carpal hands; capitate, hamate and triquetrum, are seen.
  • Right radius and right ulna is grossly normal.

Diagnosis: Radial hemimelia.


  • Radial hemimelia is a congenital absence of the radius bone of the forearm
  • It is characterized by a deformity of hand, with perpendicular relationship between forearm and wrist and an absent thumb.
  • It can be partial or total absence of the radius.  Can be bilateral in 50-72%.
  • It occur in 1:30,000-100,000 live births
  • Slightly more common in males than females
  • Classification:
    • Type I: short distal radius
    • Type II: hypoplastic radius
    • Type III: partial absence of radius
    • Type IV: complete absence of radius
  • Associations:
    • Holt-Oram syndrome-autosomal dominant with cardiac defects
    • Roberts syndrome,
    • Rothmund-Thomson syndrome,
    • VACTERL association,-vertebral anomalies, anal atresia, cardiac abnormalities, tracheoesophageal fistula, renal agenesis and limb defect
    • Fanconi anaemia,-autosomal recessive with aplastic anemia
    • TAR (thrombocytopenia-absent radius)- autosomal recessive with thrombocytopenia and absent radius, thumb is typically present.
  • Treatment: straightening of the hand and wrist stabilization through splinting, physiotherapy to improve passive extension of elbow and wihrs, surgical correction and pollicisation if thumb is absent.
Author: radhianahassan