Diagnosis of Multiple Epiphyseal Dysplasia
Diagnosis is based on personal and family medical history and skeletal X-rays. X-ray examinations of children with the recessive form of the disease show that slightly more than 50 per cent have a double patella (kneecap), a characteristic of this form of the disease.

Using MRI (Magnetic Resonance Imaging) examinations it is possible to identify and assess degeneration of the joints caused by arthrosis before it can be seen in an ordinary X-ray. DNA-based diagnostics can confirm the diagnosis in over 80 per cent of affected families. If the mutation is known in the family pre-natal diagnosis, and frequently pre-implantation embryo diagnosis, are possible.