Dysplasia, also known as epiphysealis hemimelica, is a rare developmental condition that affects the joints—particularly in the hands and feet. The term “dysplasia” means “abnormal formation,” and in this case, it refers to the overgrowth of cartilage at the ends of long bones. Although this condition is benign, it can lead to joint deformities and other complications. Dysplasia is extremely uncommon, occurring in only about 1 in 1 million people.

Request an Appointment

What Causes Dysplasia?

The exact cause of dysplasia is still unknown. It does not appear to be hereditary and most often develops in children between the ages of 3 and 15. It typically presents during periods of bone growth and may slow or stop as skeletal development completes.

Symptoms of Dysplasia

Dysplasia can range from mild to severe and may affect just one joint or multiple joints in the hands or feet. Some individuals have no noticeable symptoms, while others may experience:

  • A visible mass or swelling near a joint
  • Bone pain or discomfort
  • Joint deformities
  • Limited range of motion
  • Muscle wasting near the affected joint
  • Bone brittleness leading to frequent fractures
  • Difficulty walking or running

In some cases, symptoms subside once bone growth is complete.

How Dysplasia is Diagnosed

Dysplasia is typically diagnosed during childhood or adolescence, often after noticing a mass, swelling, or unusual gait. Diagnosis usually includes:

  • A physical exam
  • X-rays to identify cartilage overgrowth or bone deformities
  • MRI or CT scans in complex cases to assess the full extent of the abnormal growth

Treatment Options for Dysplasia

While there is no cure, treatment focuses on managing symptoms and preventing complications.

Non-Surgical Management

  • Monitoring: Mild or asymptomatic cases may require no immediate treatment.
  • Physical therapy: To improve mobility and strengthen muscles.
  • Pain management: Through medications or rest as needed.

Surgical Treatment

Surgery may be recommended in more advanced cases to:

  • Remove abnormal cartilage growth
  • Correct bone deformities
  • Relieve joint compression

Surgical outcomes are typically positive, especially when the condition is treated early.

When to See a Doctor

If you or your child notice a lump near a joint, experience unexplained bone pain, or have difficulty walking, it’s best to seek medical advice. A simple X-ray or scan can help detect dysplasia early and guide the appropriate treatment plan.

Early intervention can make a significant difference in managing symptoms and maintaining mobility.