Clinical Characteristics

Clinical features frequently associated with Acromesomelic Dysplasia Maroteaux type (AMDM/AMD1) include abnormally shaped vertebral bodies, increased lumbar lordosis, lower thoracic kyphosis, narrow thoracolumbar interpediculate distance, bowed forearms, limited elbow extension, disproportionate shortening and metaphyseal flaring of the long bones, brachydactyly, as well as short and broad phalanges and metacarpals (MIM Phenotype: 602875). Although most individuals with AMDM have normal facial features, some of the dysmorphic facial features associated with the disorder include a prominent forehead and short nose. Symptoms of AMDM become obvious in the first few years of life.