Multiple epiphyseal dysplasia, Lowry type (MED-L) is a rare genetic disorder that affects the growth of bones in the body. It is characterized by short stature, joint pain, and skeletal abnormalities. People with MED-L may have short arms and legs, a short neck, and a curved spine. They may also have hip and knee problems, as well as other joint problems. MED-L is caused by a mutation in the COL2A1 gene, which is responsible for the production of type II collagen. Treatment for MED-L is focused on managing the symptoms and complications associated with the disorder.

The symptoms of Multiple epiphyseal dysplasia, Lowry type can vary from person to person, but may include:

-Short stature
-Joint Pain and stiffness
-Early onset of osteoarthritis
-Flat feet
-Hip and knee pain
-Limited range of motion in the hips, knees, and ankles
-Abnormal curvature of the spine
-Delayed closure of the growth plates in the long bones
-Abnormal growth of the bones in the hands and feet
-Abnormal shape of the bones in the hands and feet
-Abnormal shape of the skull
-Abnormal shape of the jaw
-Abnormal shape of the ribs
-Abnormal shape of the pelvis
-Abnormal shape of the vertebrae
-Abnormal shape of the shoulder blades

Multiple epiphyseal dysplasia, Lowry type is caused by a mutation in the COMP gene. This gene provides instructions for making a protein called cartilage oligomeric matrix protein (COMP). This protein is important for the formation and maintenance of cartilage, which is a type of connective tissue that makes up much of the skeleton during early development. Mutations in the COMP gene lead to the production of an abnormal COMP protein, which disrupts the normal development of cartilage and other tissues.

1. Physical therapy: Physical therapy can help improve range of motion, strength, and coordination.

2. Surgery: Surgery may be recommended to correct joint deformities or to stabilize joints.

3. Medications: Nonsteroidal anti-inflammatory drugs (NSAIDs) may be prescribed to reduce pain and inflammation.

4. Assistive devices: Assistive devices such as braces, canes, and walkers may be recommended to help with mobility.

5. Orthotics: Orthotics, such as shoe inserts, may be recommended to help with balance and stability.

6. Dietary changes: Dietary changes may be recommended to help reduce inflammation and improve overall health.

1. Genetic mutation: Multiple epiphyseal dysplasia, Lowry type is caused by a mutation in the COMP gene.

2. Family history: Individuals with a family history of Multiple epiphyseal dysplasia, Lowry type are at an increased risk of developing the condition.

3. Age: Multiple epiphyseal dysplasia, Lowry type is typically diagnosed in childhood or adolescence.

There is no cure for Multiple epiphyseal dysplasia, Lowry type. Treatment focuses on managing the symptoms and preventing complications. Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) may be used to reduce pain and inflammation. Physical therapy and bracing may be used to help maintain joint mobility and prevent deformities. Surgery may be necessary to correct joint deformities or to replace damaged joints.