Phocomelia

Phocomelia is a devastating, rare congenital limb malformation in which the long bones are shorter than normal, with the upper portion of the limb being most severely affected.

In extreme cases, the hands or fingers are attached directly to the shoulder and the most proximal elements (those closest to the shoulder) are entirely missing.

This disorder, previously known in both autosomal recessive and sporadic forms, showed a dramatic increase in incidence in the early 1960's due to the tragic toxicological effects of the drug thalidomide.

• possibility that the aetiology of phocomelia lies in progenitor cell survival and differentiation (1)

Reference:

• 1) Galloway JL et al. A reevaluation of X-irradiation-induced phocomelia and proximodistal limb patterning. Nature. 2009 Jul 16;460(7253):400-4. Epub 2009 Jun 24.