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]. This evidence concerns the gene MATN3 and multiple epiphyseal dysplasia type 5.