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Absent Thumb

Discussion

  • total absence of the thumb may be an isolated anomaly, but it is often associated with some other congenital malformation;
  • absent thumb may be inherited as autosomal dominant or may be sporadic;
  • absent thumb is frequently observed in Holt-Oram syndrome, Fanconi's anemia, and ring D chromosome abnormalities;
  • absent radius is almost always associated with an absent thumb, except in thrombocytopenia radial aplasia (Fanconi's syndrome), where thumb is present even when the radius is absent; (see radial club hand);

Radiographs

HL4

HL6

Treatment

  • treatment in most cases of absent thumb is to perform pollicization of the index finger;
    • this will have the most significant effect on handling large objects;
  • patients with an isolated hypoplasia of the thumb tend to do better with pollicization than do patients with associated radial aplasia

References