Homozygous mutations in Indian Hedgehog (IHH; MIM 600726) gene are responsible for causing ACFD (Hellemans et al. 2003) while Brachydactyly type A1 (BDA1; MIM 112500) presenting shortened or absent middle phalanges and often accompanied by short stature, is caused by heterozygous mutations in the same gene (Gao et al. 2001; Lodder et al. 2008). This evidence concerns the gene IHH and brachydactyly type A1.