About Brachydactyly type B2
What is Brachydactyly type B2?
Brachydactyly type B2 is a rare genetic disorder characterized by shortening of the middle phalanges of the fingers and toes. It is caused by a mutation in the gene that codes for the protein fibroblast growth factor receptor 3 (FGFR3). Symptoms may include shortening of the middle phalanges, a wide gap between the first and second toes, and a wide gap between the first and second fingers.
What are the symptoms of Brachydactyly type B2?
The symptoms of Brachydactyly type B2 include shortening of the middle phalanges of the fingers and toes, as well as a wide gap between the first and second phalanges. The nails may also be abnormally shaped, and the thumb may be abnormally short. In some cases, the middle phalanges may be fused together.
What are the causes of Brachydactyly type B2?
The exact cause of Brachydactyly type B2 is unknown. However, it is believed to be caused by a genetic mutation that affects the development of the bones in the hands and feet. It is also thought to be associated with certain syndromes, such as Ellis-van Creveld syndrome and Weyers acrofacial dysostosis.
What are the treatments for Brachydactyly type B2?
1. Surgery: Surgery is the most common treatment for Brachydactyly type B2. This involves lengthening the affected fingers and toes by cutting the bone and inserting a metal rod or other device to hold the bone in place while it heals.
2. Splinting: Splinting is another treatment option for Brachydactyly type B2. This involves wearing a splint on the affected fingers and toes to help keep them in the correct position while they heal.
3. Physical Therapy: Physical therapy can help improve range of motion and strength in the affected fingers and toes.
4. Occupational Therapy: Occupational therapy can help improve the ability to perform daily activities with the affected fingers and toes.
5. Orthotics: Orthotics can be used to help support the affected fingers and toes and improve their
What are the risk factors for Brachydactyly type B2?
1. Family history of Brachydactyly type B2
2. Maternal diabetes
3. Maternal smoking
4. Maternal alcohol consumption
5. Maternal use of certain medications
6. Maternal exposure to certain environmental toxins
7. Maternal malnutrition
8. Maternal obesity
9. Maternal age
10. Genetic mutations
Is there a cure/medications for Brachydactyly type B2?
There is no cure for Brachydactyly type B2, but there are treatments available to help manage the condition. These treatments include physical therapy, occupational therapy, and splinting. Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) may also be prescribed to help reduce pain and inflammation. Surgery may also be an option for some people with Brachydactyly type B2.