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

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

• Index finger pollicization for a congenitally absent or nonfunctioning thumb.
• Pollicization of the index finger for reconstruction of the congenitally hypoplastic or absent thumb.
• Pollicization of the index finger. Method and results in aplasia and hypoplasia of the thumb.
• Pollicisation of the index finger. A 27-year follow up study.