Which are the symptoms of Dysplasia Epiphysealis Hemimelica / Trevor Disease?

Symptoms of Dysplasia Epiphysealis Hemimelica / Trevor Disease

Dysplasia Epiphysealis Hemimelica (DEH), also known as Trevor Disease, is a rare developmental disorder that affects the growth plates in the bones of children. It primarily affects the long bones, such as the femur, tibia, and humerus, but can also occur in other bones.

1. Asymmetrical Growth: One of the key symptoms of DEH is asymmetrical growth. The affected limb may grow at a different rate compared to the unaffected limb, leading to noticeable differences in length or girth. This asymmetry can become more pronounced as the child grows.

2. Joint Pain and Swelling: Children with DEH often experience joint pain and swelling in the affected limb. The pain may be intermittent or persistent and can worsen with physical activity or weight-bearing. Swelling may be present around the affected joint, making it tender to touch.

3. Limited Range of Motion: DEH can cause limitations in the range of motion of the affected joint. The child may have difficulty fully extending or flexing the joint, leading to stiffness and reduced mobility. This limitation can impact daily activities and may worsen over time.

4. Joint Instability: In some cases, DEH can result in joint instability. The affected joint may feel loose or unstable, making it prone to dislocation or subluxation (partial dislocation). This instability can further contribute to pain and functional impairment.

5. Bone Deformities: Over time, DEH can lead to bone deformities in the affected limb. These deformities can vary in severity and may include angular deformities, such as bowing or twisting of the bone. The growth plates may also become irregular, resulting in abnormal bone shape.

6. Limping or Gait Abnormalities: Children with DEH may develop a limp or gait abnormalities due to the asymmetry, pain, and limited range of motion. The altered mechanics of walking can affect the child's balance and coordination, potentially impacting their overall mobility.

7. Other Symptoms: In rare cases, DEH may be associated with additional symptoms such as joint effusion (excess fluid in the joint), muscle weakness, or muscle wasting. These symptoms can further contribute to functional impairment and may require additional medical attention.

It is important to note that the symptoms of DEH can vary widely between individuals, and the severity of the condition can also differ. Early diagnosis and appropriate management are crucial to minimize the impact of DEH on a child's growth and development.