Autosomal dominant mutations in the MATN3 gene, encoding the cartilage extracellular matrix protein matrilin-3, have been shown to cause the short-limbed dwarfism multiple epiphyseal dysplasia (MED) type 5 (EDM5; OMIM #607078) [1,2,3]. Here, MATN3 is linked to Disproportionate short-limb short stature.