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Aetiology

Authoring team

The aetiology of congenital syndactyly is thought to be a deficiency of the normal wave of apoptosis that occurs between digits in weeks 4-8 of intrauterine life. Triggering factors may be extrinsic steroid exposure or fibroblast growth factor receptor deficiency.

The failure of apoptosis separating the mesenchymal tissue or the failure of notch formation in the apical ectodermal ridge leads to syndactyly.

Alternatively, in a minority of cases an intrauterine amniotic band may traumatize the space between digits and subsequent healing leads to fusion by the time of birth.

Reference

  1. Al-Qattan MM, Yang Y, Kozin SH. Embryology of the upper limb. J Hand Surg Am. 2009 Sep;34(7):1340-50

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