Multiple Epiphyseal Dysplasia

What is multiple epiphyseal dysplasia? 

Multiple epiphyseal dysplasia is a genetic condition that affects the development of the ends of the long bones (epiphyses) in the body. It most commonly affects the bones in the arms and legs. Although it’s a condition a child is born with, it is not usually diagnosed until the child is age 2 or older. Sometimes it is not found until adulthood.   

 

What are the signs and symptoms of multiple epiphyseal dysplasia? 

Most children don’t begin having symptoms until they are at least age 2. Children with a mild form of the condition may not have symptoms until they are older. Common symptoms may include:  

• Pain in the joints, most often in the knees or hips, especially after exercise
• Other problems with the hips or knees 
• Stiffness in the joints 
• Growing to a shorter height than expected  
• An unusual walk  
  
  

What causes multiple epiphyseal dysplasia? 

Multiple epiphyseal dysplasia occurs when there is a mutation (change) in a gene in a child’s DNA. Usually, a child inherits the condition from one parent. There are many genetic causes for multiple epiphyseal dysplasia, so changes in a few different genes can lead to the condition. Sometimes a child is the first person in the family to have multiple epiphyseal dysplasia.  

 

How is multiple epiphyseal dysplasia treated?

Treatment for multiple epiphyseal dysplasia will depend on your child’s symptoms. Your care team at Arkansas Children’s is experienced in treating all types of multiple epiphyseal dysplasia and will work with you to come up with the best treatment plan for your child’s individual needs.  

Treatment options may include: 

• Physical therapy to improve motion
• Medicines, such as nonsteroidal anti-inflammatory drugs (NSAIDs), to help manage pain 
• Surgery, including surgery to treat problems with the knees or hips, or total joint replacement surgery in adulthood