Multiple Epiphyseal Dysplasia

What Is Multiple Epiphyseal Dysplasia?

Multiple epiphyseal dysplasia is a type of skeletal dysplasia. Skeletal dysplasias are conditions that cause problems with how and bone grow.

Multiple epiphyseal dysplasia (ih-pih-fih-SEEL dys-PLAY-zhuh) affects the epiphyses (ih-PIF-eh-sees), which are the areas of bone that make up the joints.

Medical care and treatments can help kids with multiple epiphyseal dysplasia live a full, active life.

What Are the Signs & Symptoms of Multiple Epiphyseal Dysplasia?

Many people with multiple epiphyseal dysplasia have no symptoms until they are toddlers or school-age, or sometimes even older.

Signs and symptoms can include:

• short stature (height less than expected for age)
• arthritis at a young age
• joint pain after activity
• joint stiffness after sitting a long time and/or first thing in the morning
• walking and running differently from other kids the same age
• bow legs (knees curve out)
• flat feet
• knock-knees (knees curve in)

Most kids will have a few of these signs, but not all. Multiple epiphyseal dysplasia does not usually affect thinking and learning abilities.

What Causes Multiple Epiphyseal Dysplasia?

A gene mutation (change) causes multiple epiphyseal dysplasia. This change causes problems with and bone growth. Many gene changes on a variety of genes can lead to the condition.

Multiple epiphyseal dysplasia is an inherited condition. Children who have it got either one changed gene from each parent or a single changed gene from one parent. Sometimes, neither parent had a changed gene, and the condition is due to a new (or spontaneous) genetic mutation that happened before birth.

A genetic counselor can help families understand how the condition can run in families.

How Is Multiple Epiphyseal Dysplasia Diagnosed?

Usually doctors find multiple epiphyseal dysplasia when a toddler or older child has joint pain or differences in the shape of their joints. The doctor will do an exam and order X-rays and genetic testing to confirm the diagnosis.

How Is Multiple Epiphyseal Dysplasia Treated?

A team of medical specialists cares for people with multiple epiphyseal dysplasia. They can include:

• an orthopedic surgeon: to treat bone and joint problems
• a genetics doctor: to help families understand the genetic changes and to plan for future medical care
• a pediatrician: for routine care
• a physical therapist: for help with muscle strength and joint motion as needed through exercises and water therapy

Treatments may include:

• taking hot baths (with swirling water, if possible) after a long day of activity to help with joint pain
• taking ibuprofen or naproxen as needed for joint pain
• weight management
• surgery, including joint replacement surgery in adulthood

How Can Parents Help?

To help your child:

• Treat your child according to their age, not their size, and encourage others to do the same.
• Talk about multiple epiphyseal dysplasia as a difference rather than a problem. Your attitude can help your child develop good self-esteem.
• Answer questions as simply as possible. If someone asks why your child is can’t do the same activities as other kids, for instance, say, “Jalen’s joints get tired faster than other kids’.” Then, mention something special about your child. For example, “Jalen has many interests. You should see his drawings.” This shows your child that many things make them special.
• Teach your child that being teased or bullied is not OK. If your child is teased or bullied at school, work with your child, teachers, and administrators to end it.
• Avoid repetitive pounding activities that can wear down the joints and increase joint pain. Swimming is a great activity for those with the condition. At school, the physical education teacher should let your child decide which activities are comfortable.
• Encourage your child to find a hobby or activity to enjoy. Help your child try many different activities, like music, art, computers, writing, and photography. Be sure to check with your doctor about any sports your child should avoid.

To help your child learn healthy habits now:

• Go to all doctor visits.
• Prepare healthy meals with lots of fresh fruits and vegetables.
• Get plenty of physical activity together as a family. Choose an activity that your child can do.

What Else Should I Know?

Children growing up with multiple epiphyseal dysplasia can thrive with the support of family and friends. Talk to anyone on the care team or a hospital social worker about resources that can help you and your child.

Support groups can be helpful for kids and their families. Ask the care team for recommendations. You also can find support and more information online at:

• Little People of America
• NORD