label: metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
label_lc: metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria
description: "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."