MULTIPLE EPIPHYSEAL DYSPLASIA

Multiple Epiphyseal Dysplasia refers to 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. This protein accumulates in the cartilage and causes premature destruction, and can lead to early arthritis. At our Medical City Children’s Orthopedics and Spine Specialists practice, we are multiple Epiphyseal Dysplasia doctors who treat children with this condition.

Schedule an Appointment

If your child needs surgery or casting, our Fracture Care Clinic opens every day and you do not need an appointment. Surgery rooms get scheduled every morning, so your child receives the care and attention they need right away.

Multiple Epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia refers to 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. This protein accumulates in the cartilage and causes premature destruction, and can lead to early arthritis.

Multiple Epiphyseal Dysplasia (MED) refers to a rare genetic disorder that affects the development of the bones in the body. It is also known as Fairbank disease or Ribbing disease. MED is a type of skeletal dysplasia, which is a group of conditions that affect the bones and cartilage.

Orthopaedic conditions commonly found among individuals with multiple epiphyseal dysplasia usually affect the joints, including the hips, knees, and ankles. This joint involvement is a hallmark of the condition and often leads to many of the common symptoms and complications experienced by those living with MED.

How Common is Multiple Epiphyseal Dysplasia?

While there are over 450 different types of skeletal dysplasias, multiple epiphyseal dysplasia is frequently encountered. However, it remains uncommon in the general population.

Many other skeletal dysplasias, such as achondroplasia or osteogenesis imperfecta, are more widely recognized. However, conditions that specifically affect the growth and development of joint cartilage, MED stands out for its relative frequency. Despite this, most families and patients are unfamiliar with the disorder until a diagnosis is made. This highlights the importance of early evaluation and expert care.

QUESTIONS AND ANSWERS

What constitutes Multiple Epiphyseal Dysplasia (MED), and how did my child develop it?

Parents typically want to understand the condition itself. They may ask about the causes, genetic inheritance patterns, and how MED affects their child’s growth and development. A healthcare provider or genetic counselor can provide detailed information about the condition’s genetics and pathophysiology.

What are the treatment options for my child with MED?

Parents are often concerned about managing their child’s condition and improving their quality of life. They may inquire about medical interventions, physical therapy, pain management, and orthopedic surgeries to help alleviate symptoms and improve mobility. Parents need to understand treatment options and their potential risks and benefits.

What is the long-term prognosis for my child with MED?

Parents of children with serious conditions like Multiple Epiphyseal Dysplasia worry about their children’s future, especially in terms of physical activity, independence, and overall well-being. They should ask about the expected progression of MED and its impact on their child’s life. As doctors, we can offer insights into the long-term outlook for children with MED and discuss ways to optimize their quality of life.

Multiple Epiphyseal Dysplasia (MED) is a condition that primarily affects the ends of the long bones, called epiphyses. The cause often lies in a problem with cartilage oligomeric matrix protein, which accumulates abnormally in the cartilage and leads to premature damage. Over time, this can result in early-onset arthritis and joint pain, especially in the lower extremities. While MED is most commonly inherited in a dominant pattern (through one parent), recessive inheritance is also possible.

In terms of growth, children with MED typically experience only minimal short stature, generally reaching adult heights between 57 and 67 inches. Most diagnoses occur later in childhood, often after persistent joint pain becomes evident. Some children may also develop ankles that roll inward (valgus alignment) and, in rare cases, encounter disruptions in blood flow to the joints (avascular necrosis).

Parents need to consult with healthcare professionals like us at the Medical City Children’s Orthopedics and Spine Specialists can provide individualized information, guidance, and support tailored to their child’s specific needs and circumstances. Additionally, connecting with support groups or organizations dedicated to rare skeletal disorders can help parents find valuable resources and connect with others facing similar challenges.

If your baby is born with Multiple Epiphyseal Dysplasia, call us and our team will help your baby

There are Different Types of MED, Including:

MED with normal stature: Individuals with this type of MED have normal height but may have joint pain, stiffness, and limited mobility.
MED with short stature: Individuals with this type of MED have short stature and may have joint pain, stiffness, and limited mobility.
MED with platyspondyly: Individuals with this type of MED have abnormalities in the vertebrae of the spine, which can cause spinal curvature and back pain.

Multiple Epiphyseal Dysplasia Symptoms

The symptoms of MED can vary depending on the type and severity of the condition, but may include:

Joint pain and stiffness: Individuals with MED may experience joint pain and stiffness, which can make it difficult to move around and perform daily activities.
Limited mobility: MED can cause limited mobility, particularly in the hips and knees.
Short stature: Some individuals with MED may have short stature, which can affect their overall quality of life.
Joint deformities: MED can cause joint deformities, such as knock knees, that can affect mobility and cause pain.
Flat feet: Some individuals with MED may have flat feet, which can cause foot pain and affect mobility.
Spinal deformities: MED can cause spinal deformities, such as scoliosis or kyphosis, which can cause back pain and affect breathing and mobility.
Vision and hearing problems: Some individuals with MED may experience vision and hearing problems due to abnormalities in the eyes and ears.

Because MED primarily targets the joints, especially the hips, knees, and ankles, early signs often include difficulty walking, trouble with sports or physical activity, and sometimes a pronounced limp. These joint issues can lead to premature wear and tear, increasing the risk of early-onset arthritis.

If you notice any of these symptoms or suspect your child may have MED, seeking medical evaluation from an orthopedic specialist or genetic counselor is essential for an accurate diagnosis and management plan.

Multiple Epiphyseal Dysplasia Diagnosis

Multiple Epiphyseal Dysplasia (MED) is often not identified until later in childhood, adolescence, or even adulthood. Diagnosis commonly occurs after an individual begins to experience persistent joint pain—especially in the hips, knees, or ankles—or shows signs of stiffness and difficulties with mobility. Unlike some other skeletal conditions, people with MED rarely have significant short stature early on, which can make early detection challenging. If your child develops unexplained joint discomfort or mobility issues as they grow, it’s important to consult your orthopedic specialist so that appropriate testing and evaluation can be performed. Early diagnosis can help guide effective management and improve outcomes.

Diagnosis of MED is typically made through a combination of medical history, physical examination, and imaging tests such as X-rays and MRI scans. Certainly, genetic testing will help doctors to confirm the diagnosis and identify the specific genetic mutation that is causing the condition.

Multiple Epiphyseal Dysplasia Treatment

Treatment for MED must manage the symptoms and focus on improving the quality of life for the child. Altogether, there are both surgical and non-surgical treatment options available. Non-surgical treatment options may include:

Physical therapy: Physical therapy may help improve joint mobility and muscle strength, and reduce joint pain.
Pain management: Pain medications or other pain management techniques may be recommended to help manage joint pain and discomfort.
Assistive devices: Braces or orthotics may help support the affected joints and reduce joint pain.
Speech and language therapy: Speech and language therapy may be helpful for individuals with MED who experience speech and language delays due to hearing problems or facial abnormalities.

Surgical treatment options may include:

Joint surgery: Joint surgery may be necessary to correct joint deformities or replace damaged joints.
Spinal surgery: Spinal surgery may be necessary to correct spinal deformities that are causing back pain and affecting mobility.
Limb lengthening surgery: Limb lengthening surgery may be an option for individuals with MED who have significant short stature.

Managing Premature Arthritis in MED

Many children and adults with Multiple Epiphyseal Dysplasia experience early-onset arthritis, often in the hips, knees, or shoulders. Managing this arthritis often requires a personalized approach combining several strategies.

Orthopedic surgeries: When joint pain or deformity becomes significant, surgical interventions may be recommended. Procedures such as correcting bone alignment (realignment surgery) or guided growth surgeries can help address joint problems early and improve long-term function.
Joint preservation: In growing children, surgeons may recommend specialized techniques. For instance, guided growth (hemiepiphysiodesis) to encourage proper bone growth slowing the progression of arthritis.
Treatment for severe deformities: As children with MED grow, severe misalignment or abnormal bone development may call for procedures such as osteotomies. This procedure cuts bones and repositioned to improve alignment and relieve pressure on the affected joint.
Addressing complex joint conditions: In cases with unique joint problems, such as a double-layered kneecap (patella) causing pain, surgeons may perform targeted procedures to remove the problematic tissue and restore comfort and mobility.
Joint replacement: For teens whose arthritis leads to advanced joint damage, total joint replacement may provide lasting pain relief and restore function. Naturally, this procedure only happens when other treatments are no longer effective.

All these options are considered carefully, based on the child’s age, degree of arthritis, and individual needs. Your orthopedic team at the Medical City Children’s Orthopedic and Spine Specialists will work with you to create a plan. The plan will preserve mobility and enhances quality of life. Regular follow-up visits and ongoing communication with your doctor are key to ensuring your child treatment continues well.

Multiple Epiphyseal Dysplasia Prevention

There are no known prevention measures for MED, as it is a genetic condition. Therefore, it is important for children with MED to work closely with their doctors to manage their child’s symptoms effectively. This will also improve their quality of life.

Multiple Epiphyseal Dysplasia Recovery

The necessary time to recover from MED depends on the severity of the condition and the type of treatment received. Unfortunately, individuals with MED may require ongoing medical care and treatment throughout their lives.

Medical City Children’s Orthopedic and Spine Specialists Provides Children and Teenagers Relief from Hand Injuries

At Medical City Children’s Orthopedic and Spine Specialists, we specialize and prioritize children’s health. Furthermore, we are adept at providing the appropriate care, including surgery for the most complicated injuries.

Finally, we treat thousands of children and teens every year at our offices in Dallas, Arlington, Flower Mound, Frisco, and McKinney, TX. Contact us today to learn more about our treatment and care of Multiple Epiphyseal Dysplasia options in children.

____________________

Footnote:

Medline Plus: Multiple Epiphyseal Dysplasia

Call 214-556-0590 to make an appointment.

Comprehensive services for children from birth through adolescence at five convenient locations: Arlington, Dallas, Flower Mound, Frisco and McKinney.