Physical Characteristics of Muptiple Epiphyseal Dysplasia

MED is a disorder of bone and cartilage development that results in small irregular epiphyses, proportionate short stature, frequently painful joints, and early onset degenerative arthritis. MED is not typically recognized until after two-years of age and in some cases, not until early adulthood. Typically adults will grow to be between 145 and 170 cm.

Face and Skull:

• Normal facial features
• Trunk, Chest and Spine:
• Accentuated thoracic kyphosis
• Possibility for blunted, flattened, or slightly ovoid vertebral bodies

Arms and legs:

• Shortened limbs
• Short and stubby fingers and toes

• Minor flexion contractures of the knees and elbows
• Genu valgum or varum

What are the x-ray characteristics?

The major radiographic features of MED include irregular epiphyses and, in childhood, irregularity of the tubular bones, usually at the hips, knees, ankles, wrists and hands. In middle to late childhood, the epiphyses are either flat or small. An important sign is the epiphyses of distal tibias are laterally malformed to produce a sloping wedge-shaped articular surface in adults. Bipartite (split) patella is common. Metaphyses are normal with mild shortening of the tubular bones. The phalanges are short and stubby, and the metacarpals have epiphyseal irregularities. Vertebral bodies are flat, with irregular end plates markedly in the thoracic spine.