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.
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Multiple Epiphyseal Dysplasia
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.
The causes of MED are genetic mutations that affect the production of type II collagen. Collagen is an important component of the cartilage in the body. MED is inherited in an autosomal dominant pattern. This means that an affected individual has a 50% chance of passing the condition on to each of their children.
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.
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.
It’s essential for parents to consult with healthcare professionals like us at the Medical City Childrens 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
Diagnosis
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.
Multiple Epiphyseal Dysplasia Prevention
There are no known prevention measures for MED, as it is a genetic condition. Therefore, it is important for individuals with MED to work closely with their healthcare team to manage their child’s symptoms effectively and improve their quality of life.
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 Arlington, Dallas, Flower Mound, Frisco, and McKinney, TX. Contact us today to learn more about our treatment and care of Multiple Epiphyseal Dysplasia options in children.
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