MIR140-related spondyloepiphyseal dysplasia is a rare genetic disorder that affects the bones and joints. It is caused by a mutation in the MIR140 gene, which is responsible for the production of a protein that helps regulate the development of bones and joints. Symptoms of this disorder include short stature, joint stiffness, and skeletal abnormalities such as a short neck, curved spine, and flattened chest. Other features may include hearing loss, vision problems, and intellectual disability. Treatment typically involves physical therapy, medications, and surgery.

The symptoms of MIR140-related spondyloepiphyseal dysplasia (SED) vary from person to person, but may include:

-Short stature
-Abnormal curvature of the spine (scoliosis)
-Abnormal growth of the vertebrae (vertebral anomalies)
-Abnormal growth of the hip bones (hip dysplasia)
-Abnormal growth of the shoulder blades (shoulder blade dysplasia)
-Abnormal growth of the ribs (rib dysplasia)
-Abnormal growth of the long bones (long bone dysplasia)
-Abnormal growth of the skull (craniofacial dysplasia)
-Abnormal growth of the jaw (mandibular dysplasia)
-Abnormal growth of the teeth (

MIR140-related spondyloepiphyseal dysplasia is caused by mutations in the MIR140 gene. This gene provides instructions for making a protein that is involved in the regulation of other genes. Mutations in this gene can lead to the production of an abnormal version of the protein, which disrupts the normal development of bones and other tissues.

Treatment for MIR140-related spondyloepiphyseal dysplasia is primarily supportive and symptomatic. Treatment may include physical therapy, occupational therapy, and bracing to help improve mobility and reduce pain. Surgery may be recommended to correct spinal deformities or to stabilize the spine. In some cases, growth hormone therapy may be recommended to help improve growth and development.

1. Genetic mutation in the MIR140 gene.
2. Family history of MIR140-related spondyloepiphyseal dysplasia.
3. Being of a certain ethnic background, such as African American or Hispanic.
4. Being female.
5. Advanced age.

At this time, there is no cure for MIR140-related spondyloepiphyseal dysplasia. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, medications to reduce pain, and orthopedic surgery to correct skeletal deformities.