In humans, homozygous frameshift mutations in NKX3-2 cause the rare disorder spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD; OMIM: 613330), which is characterized by short-trunk, long-limbed dwarfism and bow-leggedness (Hellemans et al., 2009). This evidence concerns the gene NKX3-2 and spondylo-megaepiphyseal-metaphyseal dysplasia.