GLI3 mutations are associated with several human syndromic [GCPS, PHS, acrocallosal syndrome] and non-syndromic (isolated) congenital limb malformations [PPD-IV, PAPA/B] (Vortkamp et al. 1991; Kang et al. 1997; Radhakrishna et al. 1997, 1999; Elson et al. 2002). This evidence concerns the gene GLI3 and acrocallosal syndrome.