Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. The disease is metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MONDO_0013941). Also known as: MC-HGA, metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria, metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria, spondyloenchondromatosis with D-2-hydroxyglutaric aciduria.