Symptoms of Multiple Epiphyseal Dysplasia
Generally, children affected by the disease experience joint problems from infancy. This usually starts with pain in the knees followed by pain in the hips, especially after physical exertion. It may also make it difficult to rise from a sitting position, bend the knees, or walk long distances. Joint problems usually worsen with age. It is also common that people with the disease are of short stature and have small hands and feet.

Beside pains in the joints, children who have the recessive form of the disease may also have malformations of hands and feet (club foot), and knees with a double-layered patella.

The progression and severity of the disease vary greatly between families and individuals within the same family. Around the age of thirty, changes associated with arthrosis may cause stiffness, pain and reduced joint mobility. Knee joints are particularly affected and may lock, causing pain. With age other joints are affected, particularly hip, ankle, shoulder, hand and finger joints. The progression of the disease and wear and tear on the joints also affects muscles, with increasing muscle wastage (atrophy) resulting in muscle fatigue and eventually in brittle bones (osteoporosis). The spine usually remains unaffected until middle age, and then becomes curved (scoliosis).

In affected families, women often have a more severe form of the disorder than men. Most women over the age of 35 have had some symptoms requiring surgery on joints (arthroplasty) or an arthroscopy. Arthroscopy is a microsurgery technique used to examine and treat damage to the interior of joints.