Clinical features and x-rays are the mainstay of diagnosis.
Mutations in 5 known gene locations account for 50% of cases. Molecular genetic testing is available on a clinical basis for the COMP gene on chromosome 19. Prenatal diagnosis is possible for the COMP mutation, if the diagnosis is suspected on ultrasound.
Often times, MED is misdiagnosed as Legg-Calvé-Perthes disease. In order to distinguish between the two conditions, bone scans and full skeletal radiographic surveys are often times necessary.