Spondyloepimetaphyseal dysplasia, matrilin-3 type (SEMD-ML3) is a rare genetic disorder that affects the bones and joints. It is caused by a mutation in the MATN3 gene, which is responsible for producing the protein matrilin-3. Symptoms of SEMD-ML3 include short stature, skeletal abnormalities, and joint problems. People with this condition may also have hearing loss, vision problems, and intellectual disability. Treatment typically involves physical therapy, medications, and surgery.

The symptoms of Spondyloepimetaphyseal dysplasia, matrilin-3 type can vary from person to person, but may include:

-Short stature
-Delayed bone age
-Flat face
-Short neck
-Short ribs
-Flared metaphyses
-Enlarged epiphyses
-Enlarged joints
-Kyphoscoliosis
-Hip dysplasia
-Joint laxity
-Joint contractures
-Crowded teeth
-Hearing loss
-Cardiac defects
-Respiratory problems
-Gastrointestinal problems
-Developmental delay
-Intellectual disability

Spondyloepimetaphyseal dysplasia, matrilin-3 type is caused by mutations in the MATN3 gene. This gene provides instructions for making a protein called matrilin-3, which is found in cartilage and other connective tissues. Mutations in the MATN3 gene lead to the production of an abnormal version of the matrilin-3 protein, which disrupts the normal development and maintenance of bones and other connective tissues. This disruption leads to the signs and symptoms of spondyloepimetaphyseal dysplasia, matrilin-3 type.

1. Physical therapy: Physical therapy can help improve strength, flexibility, and range of motion in affected joints.

2. Surgery: Surgery may be necessary to correct any skeletal deformities or joint problems.

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

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

5. Genetic counseling: Genetic counseling can help families understand the condition and the risks associated with it.

1. Genetic mutation: The most common cause of spondyloepimetaphyseal dysplasia, matrilin-3 type is a mutation in the MATN3 gene.

2. Family history: Individuals with a family history of spondyloepimetaphyseal dysplasia, matrilin-3 type are at an increased risk of developing the condition.

3. Gender: Spondyloepimetaphyseal dysplasia, matrilin-3 type is more common in males than females.

4. Age: Spondyloepimetaphyseal dysplasia, matrilin-3 type is more likely to occur in children and young adults.

There is no cure for spondyloepimetaphyseal dysplasia, matrilin-3 type. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, medications to reduce pain, and surgery to correct skeletal deformities.