Multiple Epiphyseal Dysplasia

What You Need to Know

  • Multiple epiphyseal dysplasia is the most commonly occurring form of skeletal dysplasia and affects the long bones in the body.
  • Multiple epiphyseal dysplasia is most often passed to a child by one parent.
  • The condition is usually diagnosed later in life.
  • Orthopaedic conditions commonly found among individuals with multiple epiphyseal dysplasia usually affect the joints, including the hips, knees and/or ankles.
  • Treatment for multiple epiphyseal dysplasia depends on the patient’s symptoms and corresponding orthopaedic conditions.

What is multiple epiphyseal dysplasia?

Multiple epiphyseal dysplasia is a condition that affects the ends of the long bones, otherwise known as epiphysis. The condition results from a problem in the cartilage oligomeric matrix protein, which accumulates in the cartilage and causes premature destruction, and can lead to early arthritis. Multiple epiphyseal dysplasia is usually inherited dominantly, meaning through one parent, but it may also be recessive.

Patients with multiple epiphyseal dysplasia have minimal short stature, averaging 57 to 67 inches tall, and are usually diagnosed later in life after suffering from joint pain in the lower extremities. They may also have ankles that roll inward (valgus) and suffer from a disruption of blood flow to the joints (avascular necrosis).

What are the symptoms of multiple epiphyseal dysplasia?

  • Hip problems due to misalignment, subluxation or Perthes disease
  • Knee problems due to misalignment
  • Ankle problems due to misalignment
  • Double-layer kneecap (patella)
  • Premature arthritis, which can occur when the patient is in their 20s or 30s in the hips, knees and shoulders

Multiple Epiphyseal Dysplasia Diagnosis

A doctor makes the diagnosis of multiple epiphyseal dysplasia with a complete medical history, physical examination and X-rays of the pelvis, lower extremities and shoulders if pain is present.

Multiple Epiphyseal Dysplasia Treatment

Treatment for multiple epiphyseal dysplasia varies depending on the associated orthopaedic conditions that present in the patient and may include:

  • Realignment surgery of the hips
  • Guided growth of the lower extremities (hemiepiphysiodesis) to help correct deformities
  • Osteotomies for severe deformities of the lower extremities as the patient matures
  • Excision of patella if there is a double layer and it is causing pain
  • Total joint replacements of the hips, knees and shoulders

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