About Metaphyseal dysplasia, Braun-Tinschert type

What is Metaphyseal dysplasia, Braun-Tinschert type?

Metaphyseal dysplasia, Braun-Tinschert type is a rare genetic disorder that affects the development of bones. It is characterized by short stature, skeletal abnormalities, and facial features such as a prominent forehead, wide-set eyes, and a small chin. Other features may include hearing loss, heart defects, and intellectual disability. The disorder is caused by mutations in the WNT1 gene and is inherited in an autosomal dominant pattern. Treatment is based on the symptoms present in each person.

What are the symptoms of Metaphyseal dysplasia, Braun-Tinschert type?

The symptoms of Metaphyseal dysplasia, Braun-Tinschert type, include short stature, short limbs, a broad chest, a prominent forehead, a short neck, and a wide, square-shaped face. Other features may include a short nose, a wide mouth, a high-arched palate, and a prominent chin. Skeletal abnormalities may include a short, broad femur, a short, broad humerus, and a short, broad radius. Other Skeletal abnormalities may include a short, broad ulna, a short, broad tibia, and a short, broad fibula. Other features may include a short, broad pelvis, a short, broad ribs, and a short, broad vertebrae.

What are the causes of Metaphyseal dysplasia, Braun-Tinschert type?

Metaphyseal dysplasia, Braun-Tinschert type is caused by a mutation in the COL2A1 gene. This gene provides instructions for making a protein called type II collagen, which is a major component of cartilage and bone. Mutations in the COL2A1 gene lead to the production of an abnormal form of type II collagen, which disrupts the normal development of bones and other connective tissues.

What are the treatments for Metaphyseal dysplasia, Braun-Tinschert type?

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

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

3. Orthotics: Orthotics can help support the joints and reduce pain.

4. Medications: Pain medications, such as nonsteroidal anti-inflammatory drugs (NSAIDs), may be prescribed to reduce pain and inflammation.

5. Assistive devices: Assistive devices, such as walkers or wheelchairs, may be necessary to help with mobility.

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

What are the risk factors for Metaphyseal dysplasia, Braun-Tinschert type?

1. Genetic mutation in the COL10A1 gene
2. Family history of Metaphyseal dysplasia, Braun-Tinschert type
3. Exposure to certain environmental factors, such as radiation or certain chemicals
4. Maternal diabetes or obesity during pregnancy
5. Maternal use of certain medications during pregnancy

Is there a cure/medications for Metaphyseal dysplasia, Braun-Tinschert type?

There is no cure for Metaphyseal dysplasia, Braun-Tinschert type. Treatment is based on the symptoms and may include physical therapy, orthopedic surgery, and medications to help manage pain and other symptoms. Medications may include nonsteroidal anti-inflammatory drugs (NSAIDs), muscle relaxants, and pain relievers.