The diagnosis is mainly based upon delineating the specific clinical and radiographic pattern of skeletal involvement. However, the different types of skeletal dysplasia can overlap considerably in their clinical presentation. Molecular or genetic analysis may be required to resolve diagnostic difficulties. Molecular analysis is also of importance to the phenotype genotype correlations and to disease classifications. Differential diagnosis Juvenile idiopathic arthritis may closely resemble the clinical presentation of some<unk> s or genetic skeletal dysplsias. In that, both conditions can present with swollen, stiff and deformed joints.
Osteochondrodysplasia
Multiple epiphyseal dysplasia
Osteitis pubis
Myositis ossificans
Metaphyseal dysplasia
Radial dysplasia
Osteochondroma
Leri pleonosteosis