Which are the symptoms of Multiple epiphyseal dysplasia?

Symptoms of Multiple Epiphyseal Dysplasia

Multiple epiphyseal dysplasia (MED), also known as Fairbank disease, is a rare genetic disorder that affects the development of the bones and joints. It primarily affects the growth plates, which are the areas of cartilage at the ends of long bones that allow for bone growth. MED is characterized by a range of symptoms that can vary in severity from person to person.

1. Joint pain and stiffness: One of the most common symptoms of MED is joint pain, particularly in the hips and knees. This pain can be mild to severe and may worsen with physical activity. Stiffness in the affected joints is also common, especially after periods of rest or inactivity.

2. Limited range of motion: MED can lead to a reduced range of motion in the joints, making it difficult to perform certain movements. This limitation can affect daily activities such as walking, running, and climbing stairs.

3. Short stature: Many individuals with MED have a shorter stature compared to their peers. This is primarily due to the abnormal development of the growth plates in the long bones, which affects overall bone growth.

4. Joint deformities: Over time, MED can cause deformities in the joints, particularly in the hips and knees. These deformities can include a shallow hip socket (hip dysplasia), a flattened or irregular shape of the femoral head (the ball-shaped part of the thigh bone that fits into the hip socket), and abnormal alignment of the knees.

5. Waddling gait: Due to the joint abnormalities and limited range of motion, individuals with MED may develop a waddling gait. This is characterized by a side-to-side swaying motion while walking, as the body compensates for the joint issues.

6. Early-onset osteoarthritis: MED can increase the risk of developing osteoarthritis at an earlier age than usual. Osteoarthritis is a degenerative joint disease characterized by the breakdown of cartilage and the formation of bone spurs. The joints most commonly affected by osteoarthritis in MED are the hips and knees.

7. Joint clicking or popping: Some individuals with MED may experience joint clicking or popping sounds during movement. This can be due to the abnormal alignment of the joints or the presence of loose cartilage fragments within the joint.

8. Mild to moderate scoliosis: Scoliosis, a sideways curvature of the spine, can occur in individuals with MED. The severity of scoliosis can vary, ranging from mild to moderate.

9. Delayed bone age: MED can cause a delay in bone age, meaning that the bones may appear younger than the individual's chronological age. This delay can be observed through X-rays or other imaging techniques.

10. Other skeletal abnormalities: In some cases, MED may be associated with additional skeletal abnormalities, such as abnormal development of the hands and feet, including shortened fingers or toes.

It is important to note that the symptoms of MED can vary widely among affected individuals. Some individuals may experience mild symptoms that do not significantly impact their daily lives, while others may have more severe symptoms that require medical intervention and management.