Clinical Manifestations. Multiple epiphyseal dysplasia usually remains unrecognized until the child is 5 to 10 years of age. The hands sometimes appear short and stubby, especially the thumbs. The shortening in the limbs is variable, and the trunk is normal.

Symptoms include morning stiffness, difficulty in running or climbing stairs, and a waddling gait. Joint discomfort, pain, and stiffness also develop, especially in the lower limbs. At first, symptoms tend to be episodic, transient, and fluctuating, but the waddling gait becomes more pronounced as the disorder progresses, and increased discomfort and stiffness force patients to limit their activities. Severe osteoarthritis of the hips often develops in older patients. Some affected persons, however, remain asymptomatic. Adult height ranges from 54 to 61 inches.

Radiographic Findings. Accurate diagnosis requires radiographic examination of the entire skeleton. Bilateral epiphyseal abnormalities, primarily in the hips, knees, and ankles, are the chief manifestations. The ossification centers of the epiphyses appear late, and fusion with the bone shaft is late. The epiphyses are irregular and flattened, and the ossification centers may be mottled with secondary centers, but there is no true stippling.

Mild shortening of the long bones develops, and metaphyseal irregularity is minimal. A deficiency in the lateral portion of the epiphyses of the distal tibias produces a sloping, wedge-shaped distal articular surface, which is an important diagnostic sign in adults. Bipartite patella (double layer patella) is a common finding. Short, stubby phalanges and metacarpals with epiphyseal irregularities are seen. Vertebral changes are minimal and are usually manifested as Schmorl’s nodules or mild anterior wedging of the vertebral bodies in the thoracolumbar area.

Differential Diagnosis. Multiple epiphyseal dysplasia is often mistakenly diagnosed as bilateral Legg-Calvé-Perthes disease. Family history, bone scans, and a radiographic survey of the entire skeleton help distinguish the two conditions. In patients with multiple epiphyseal dysplasia, the epiphyses of the femoral heads are symmetrically affected, unlike the asymmetric involvement that characterizes Legg-Calvé-Perthes disease; multiple epiphyseal dysplasia is also found in other parts of the skeleton.