Clinical Guidance

Autosomal dominant multiple epiphyseal dysplasia (MED) includes a spectrum of severity from early-onset joint pain, joint deformity, and short stature to milder forms of MED that remain undiagnosed or are misdiagnosed as bilateral Perthes disease or even early-onset familial osteoarthritis. Presentation. The presenting symptom early in childhood is usually pain in the hips and/or knees after exercise.

Diagnostic Criteria

Suggestive Findings

Autosomal dominant multiple epiphyseal dysplasia (MED) should be suspected in individuals with the following clinical and radiographic findings and family history.

Clinical findings

• Pain in the hips and/or knees and fatigue, often after exercise (frequently starting in early childhood)

• Adult height in the lower range of normal or mildly shortened

Management Guidelines

No clinical practice guidelines for autosomal dominant multiple epiphyseal dysplasia (MED) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with autosomal dominant MED, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Autosomal Dominant Multiple Epiphyseal Dysplasia: Recommended Evaluations Following Initial Diagnosis

Surveillance Guidelines

Evaluation by an orthopedic surgeon is recommended if the affected individual has chronic pain or limb deformities (genu varum, genu valgum).

Source: GeneReviews — "Multiple Epiphyseal Dysplasia, Autosomal Dominant"