Mixed sclerosing bone dystrophy with extra-skeletal manifestations is a rare genetic disorder characterized by progressive bone and joint deformities, as well as extra-skeletal manifestations such as hearing loss, vision problems, and intellectual disability. It is caused by mutations in the COL11A2 gene, which is responsible for the production of type XI collagen. This disorder is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated in order for the disorder to be expressed.

The symptoms of Mixed Sclerosing Bone Dystrophy with Extra-Skeletal Manifestations can vary from person to person, but may include:

• Bone pain
* Joint pain
* Muscle weakness
* Fatigue
* Difficulty walking
* Abnormal curvature of the spine (scoliosis)
* Abnormal curvature of the ribs (pectus excavatum)
* Abnormal curvature of the pelvis (pelvic obliquity)
* Abnormal curvature of the legs (genu valgum)
* Abnormal curvature of the feet (clubfoot)
* Abnormal curvature of the hands (clinodactyly)
* Abnormal curvature of the fingers (camptodactyly)
* Abnormal curvature of the toes (hammertoe)

Mixed sclerosing bone dystrophy with extra-skeletal manifestations is a rare genetic disorder caused by mutations in the SLC25A13 gene. This gene is responsible for the production of a protein called citrin, which is involved in the transport of molecules across the inner membrane of mitochondria. Mutations in this gene can lead to a decrease in the production of citrin, resulting in a buildup of certain molecules in the mitochondria, which can cause a variety of symptoms. The exact cause of the extra-skeletal manifestations is unknown, but it is believed to be related to the disruption of mitochondrial function caused by the SLC25A13 gene mutation.

The treatment for Mixed Sclerosing Bone Dystrophy with extra-skeletal manifestations is focused on managing the symptoms and complications associated with the condition. Treatment may include physical therapy, occupational therapy, medications to reduce pain and inflammation, and orthopedic surgery to correct any skeletal deformities. In some cases, medications such as corticosteroids or immunosuppressants may be used to reduce inflammation and slow the progression of the disease. In addition, lifestyle modifications such as avoiding activities that put stress on the joints and maintaining a healthy weight can help reduce symptoms and improve quality of life.

1. Genetic predisposition: Mutations in the COL1A1 gene, which encodes type I collagen, are associated with mixed sclerosing bone dystrophy with extra-skeletal manifestations.

2. Age: The condition is more common in adults, although it can occur in children.

3. Gender: The condition is more common in males.

4. Family history: A family history of the condition increases the risk of developing it.

5. Environmental factors: Exposure to certain environmental toxins, such as lead, may increase the risk of developing the condition.

Unfortunately, there is no cure for mixed sclerosing bone dystrophy with extra-skeletal manifestations. Treatment focuses on managing symptoms and preventing complications. Medications such as non-steroidal anti-inflammatory drugs (NSAIDs) and corticosteroids may be used to reduce pain and inflammation. Physical therapy and occupational therapy can help maintain joint mobility and strength. Surgery may be necessary to correct deformities or to stabilize joints.