Multiple Epiphyseal Dysplasia - Signs and Symptoms

Signs and Symptoms

Children with autosomal dominant MED experience joint pain and fatigue after exercising. Their x-rays show small and irregular ossifications centers, most apparent in the hips and knees. A waddling gait may develop. Flat feet are very common. The spine is normal but may have a few irregularities, such as scoliosis. There are very small capital femoral epiphyses and hypoplastic, poorly formed acetabular roofs. Knees have metaphyseal widening and irregularity while hands have brachydactyly (short fingers) and proximal metacarpal rounding. By adulthood, people with MED are of short stature or in the low range of normal and have short limbs relative to their trunks. Frequently, movement becomes limited at the major joints, especially at the elbows and hips. However, loose knee and finger joints can occur. Signs of osteoarthritis usually begin in early adulthood.

Children with recessive MED also experience joint pain, particularly of the hips and knees, but also commonly have deformities of the hands, feet, knees, or vertebral column (like scoliosis). Approximately 50% of affected children have abnormal findings at birth (e.g., club foot or twisted metatarsals, cleft palate, inward curving fingers due to underdeveloped bones and brachydactyly, or ear swelling caused by injury during birth). Height is within the the normal range prior to puberty. As adults, people with recessive MED are only slightly more diminished in stature but still within the normal range. Lateral knee radiography can show multi-layered patellae.