Multiple epiphyseal dysplasia (MED)

• What is Multiple Epiphyseal Dysplasia (MED)
• Statistics on Multiple Epiphyseal Dysplasia (MED)
• Risk Factors for Multiple Epiphyseal Dysplasia (MED)
• Progression of Multiple Epiphyseal Dysplasia (MED)
• Symptoms of Multiple Epiphyseal Dysplasia (MED)
• Clinical Examination of Multiple Epiphyseal Dysplasia (MED)
• How is Multiple Epiphyseal Dysplasia (MED) Diagnosed?
• Prognosis of Multiple Epiphyseal Dysplasia (MED)
• How is Multiple Epiphyseal Dysplasia (MED) Treated?
• Multiple Epiphyseal Dysplasia (MED) References

What is Multiple Epiphyseal Dysplasia (MED)

Multiple epiphyseal dysplasia (MED) is a rare genetic condition that affects the “growing portion” or head of the long bones. It belongs to a group of disorders called osteochondrodysplasias that result in abnormal development of cartilage and bone.

Risk Factors for Multiple Epiphyseal Dysplasia (MED)

MED is usually passed on from an affected parent to the child as an autosomal dominant trait. This means that if one parent has the disease, there is a 50% chance that any child produced by that parent of having the condition.

Progression of Multiple Epiphyseal Dysplasia (MED)

MED is characterized by abnormal formation of the ends of the long bones. It is thought to result from a genetic mutation that causes the formation of defective cartilage that cannot withstand normal forces. Mild and severe forms of MED have been described.
Half of affected individuals have an abnormality at birth such as clubfoot or cleft palate. Onset of joint pains in hips, knees and ankles usually occurs in late childhood. Height is usually within normal range till puberty, and is only slightly reduced in adulthood.

How is Multiple Epiphyseal Dysplasia (MED) Diagnosed?

X-rays of affected bones can help confirm a diagnosis of MED in individuals who are suspected to have the condition. Genetic testing for diagnosis, carrier testing and pre-natal testing is also available.

Prognosis of Multiple Epiphyseal Dysplasia (MED)

Most patients with MED have little functional disability and are able to live productive and fulfiling lives. There is an increased tendency to develop osteoarthritis in weight-bearing joints by the second or third generation of life, predisposing to joint replacements during adulthood.

How is Multiple Epiphyseal Dysplasia (MED) Treated?

Patients should be counselled with regards to the nature of their condition and offered genetic testing/counselling if they desire it. Avoiding high contact sports and keeping within a normal weight range is advised. Surgical correction of alignment, via osteotomy can help distribute weight more evenly. Joint replacement surgery is often undertaken during adulthood.

Multiple Epiphyseal Dysplasia (MED) References

[1] Bonaf Ballhausen, Superti-Furga. Gene Reviews: Multiple Epiphyseal Dysplasia, Recessive, 2004. [available online @ http://www.geneclinics.org/] [2] Curcione, Stanton. Multiple Epiphyseal Dysplasia (1995).
[available online @ http://gait.aidi.udel.edu/res695/homepage/pd_ortho/educate/clincase/epipdysp.htm] [3] Stanescu, R., Stanescu, V., Muriel, M., Maroteaux, P. Multiple Epiphyseal Dysplasia, Fairbank Type: Morphologic and biochemical study of cartilage. Am. J. Med. Gen. 1993; 45: 501-507.