Mutations in the human HOXD13 gene could lead to diversiform phenotypes, including synpolydactyly type 1 (SPD1; OMIM 186000), brachydactyly types D (BDD; OMIM 113200) and E (BDE; OMIM 113300), SD5 (OMIM 186300), a novel brachydactyly-syndactyly syndrome (BD-SD; OMIM 610713), or VACTERL association (OMIM 192350). Here, HOXD13 is linked to synpolydactyly type 1.