It is included on the spectrum of developmental bone dysplasias including pycnodysostosis and osteopoikilosis.

LEMD3 has been associated with laminopathies as well as osteopoikilosis.

The radiographic appearance of osteopoikilosis on an x-ray is characterized by a pattern of numerous white densities of similar size spread throughout all the bones.

Another differentiating factor is age, with blastic metastasis mostly affecting older people, and osteopoikilosis being found in people 20 years of age and younger.

Mutations in the LEMD3 gene have been linked to several genetic diseases such as osteopoikilosis, melorheostosis and Buschke-Ollendorff syndrome.