Multiple Epiphyseal Dysplasia

Multiple epiphyseal dysplasia

Multiple epiphyseal dysplasia is a condition that affects the spine and can cause serious health problems. Fortunately, there is a treatment available that can offer relief for many people with this condition. Read on to learn more about what this condition is, what it causes, and what the treatment is.


Multiple epiphyseal dysplasia (MED) is a condition that affects the growth of the ends of long bones. This may result in abnormal ossification, or premature destruction of cartilage, leading to early arthritis. MED is a genetic disorder that is inherited as an autosomal recessive trait.

This type of skeletal dysplasia is caused by mutations in certain genes. These genes help to guide the body’s various functions. The symptoms of multiple epiphyseal dysplasia vary depending on the mutations. However, the main symptoms are usually joint pain and fatigue after long walks. Other symptoms include a waddling gait and irregular femora.

Surgical treatment is often needed to correct the malformations. The affected knees and hips may need to be replaced. Surgery can also be done to improve alignment, which helps to distribute weight evenly. In some cases, joint replacement surgery is performed while the person is in his or her early twenties.

Although most patients with MED have a low level of functional disability, most are able to lead healthy lives. It is difficult to determine the true prevalence of disorders. It is estimated that between one and five people in every 100,000 have a specific form of MED.

Some of the more common symptoms of MED include short stature, irregular femora, curved fingers, bowed legs and cleft palate. Other symptoms include pain in the joints and inflammation. Medications that can help with these symptoms are anti-inflammatory drugs, cyclophosphamide, and rituximab.

It is important to talk to your doctor or care team about your symptoms. They can help you find the right treatment for your condition. If you have questions, contact your social worker at your hospital. Many resources are available to support families with children affected by MED. You can also download the RareGuru app to connect with other patients and caregivers.

Multiple epiphyseal dysplasia is a genetic disorder that can cause arthritis and early-onset pain in the joints. Affected individuals may also have other skeletal malformations. A doctor can make a diagnosis through physical examination and x-rays of the pelvis, lower extremities, and the bones affected by the disease.


When a doctor diagnoses a child with multiple epiphyseal dysplasia, he or she makes the diagnosis based on clinical and radiological features. The condition affects the ends of the long bones (epiphyses) and causes problems with the growth and development of cartilage. It also is associated with joint deformity and pain.

There are six known genes that are believed to cause multiple epiphyseal dysplasia. The underlying mechanism is a problem with the cartilage oligomeric matrix protein. This protein accumulates in the cartilage, causing premature destruction. The genes that cause this disease are alpha 2(IX) collagen, COL9A1, DTDST, MATN3, COMP, and SLC26A2.

Researchers have found that the MED type is not simply a single disease but represents a continuous spectrum of severity. The majority of cases of MED are autosomal dominant. The symptoms of the disease include short stature, short limbs, joint deformity, and joint pain. Depending on the patient’s age, total hip replacement can be required as early as the third decade of life.

Recently, two studies have reported encouraging results from early follow-up. One study involved seven patients with multiple epiphyseal dysplasia. These patients were treated with a cone stem. The other included nine patients who had undergone THR for symptomatic osteoarthritis of the hip.

The results of these studies indicate that early surgery is successful in reducing pain and improving mobility. However, a full understanding of the long-term outcomes of THR will need to be studied further. This would help surgeons and patients understand the functional benefits and possible revisions in the future.

Molecular diagnostic studies should include a description of the MED types and their clinical manifestations. This should provide a basis for identifying and determining the underlying molecular mechanisms of MED. The mutation analysis of these known genes should be used to confirm the diagnosis. In addition, the diagnosis of MED can be made through genetic counselling.

While the diagnosis of multiple epiphyseal dysplasia is usually made later in life, there are resources available to help children with the condition. The support of friends and family is important. Getting a proper diagnosis and treatment is a great way for kids with multiple epiphyseal dysplasia to live happy and healthy life.


Multiple epiphyseal dysplasia (MED) is a condition that affects the end of long bones in the body. This disorder causes abnormal cartilage development and resulting in joint pain. The disease is usually genetic, with most individuals inheriting it from one parent.

There are two types of multiple epiphyseal dysplasia: dominant and recessive. Both have mild symptoms. The condition is caused by mutations in certain genes. The dominant form typically presents in early childhood, while the recessive form is present in children and adults.

The diagnosis is made through physical examination and X-rays of the affected bones. Doctors also order genetic testing to confirm the diagnosis. The most common symptoms of MED are joint pain and deformities of the joints. Patients with this condition may have problems with blood flow to the joints. Surgical correction is recommended to improve the alignment of the joints.

Most patients with MED are able to lead fulfilling lives. However, some individuals develop osteoarthritis in weight-bearing joints later in life. These patients can also experience other clinical manifestations such as joint pain, swelling, or scoliosis.

Multiple epiphyseal dysplasia is a rare disorder that causes abnormal development of long bones in the body. The symptoms are usually mild and most people with the condition are healthy and normal-looking. Some patients may need to have total hip replacement before the age of 30.

Although there is no known cure for the disease, there are treatments. In addition to surgery, physical therapy is often used to treat the condition. These include stretching exercises and avoiding high-contact sports. These treatments can help to keep the joints flexible and distribute the weight evenly.

Multiple epiphyseal dysplasia can be a challenging disorder for orthopaedic surgeons, especially in the treatment of hip deformities. In addition to requiring surgery to correct deformities, patients may require total hip replacement before the age of 30. During their lifetime, patients with MED are at risk for developing osteoarthritis in weight-bearing knees and hips.

While there is no known cure for MED, many patients with the condition are able to lead fulfilling lives. Patients can also benefit from the support of their families. Talk to your doctor and hospital staff to learn more about the disease and available resources.

Long-term results

Multiple epiphyseal dysplasia is a genetic condition that affects the development of the long bones of the body. It primarily affects the epiphyses or areas of bone that makeup joints. The disease causes deterioration of the hip joint, which may lead to the need for a total hip replacement. It is also associated with premature osteoarthritis.

The clinical manifestations of the disease can vary greatly depending on the genes involved. In addition, patients can be affected by both dominant and recessive forms. The dominant form is characterized by skeletal malformations and pain. It is also accompanied by a short stature. The recessive form is characterized by a milder form of the disease that only affects the growth zones of the long tubular bones.

The MED condition is usually passed from a parent to a child. Symptoms develop early in childhood and interfere with normal activities. It is important to diagnose and treat this condition in a timely manner. The goal is to allow the child to lead a full and active life.

Patients can suffer from joint pain throughout their childhood. The diagnosis is made after examining a child’s health and family history. In addition, doctors will order genetic testing. The diagnosis is confirmed by a physical examination and radiological findings. A doctor may make the diagnosis of spondyloepiphyseal dysplasia by performing X-rays on the pelvis and shoulders.

Various treatment options are available for patients with MED. One option involves total hip arthroplasty (THA). The surgical procedure provides substantial pain relief and improves the patient’s quality of life. However, there is limited information on the long-term outcomes of THA for this disorder.

Some studies have shown promising results in early follow-ups. The authors of these studies recommend careful surgical techniques, meticulous postoperative rehabilitation and patient-focused care.

A study published in Acta orthopaedica showed that THA and TKA are safe and effective options for patients with multiple epiphyseal dysplasia. A total of nine patients from four families were reviewed. The patients were followed up for an average of 15.9 years. The functional outcome of the patients was assessed using the Harris hip score and the Merle d’aubigne score.

Multiple Epiphyseal Dysplasia | Johns Hopkins Medicine
Multiple epiphyseal dysplasia: MedlinePlus Genetics


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