About Brachydactyly type E
What is Brachydactyly type E?
Brachydactyly type E is a rare genetic disorder characterized by shortening 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 fingers and toes, as well as other skeletal abnormalities.
What are the symptoms of Brachydactyly type E?
The most common symptoms of Brachydactyly type E are short, stubby fingers and toes, and a shortening of the middle phalanges of the fingers and toes. Other symptoms may include a shortening of the metacarpals and metatarsals, a wide gap between the first and second toes, and a wide gap between the thumb and index finger.
What are the causes of Brachydactyly type E?
Brachydactyly type E is a genetic disorder caused by mutations in the gene that codes for the protein fibroblast growth factor receptor 3 (FGFR3). Mutations in this gene can cause the bones in the hands and feet to be abnormally short. Other causes of Brachydactyly type E include environmental factors, such as exposure to certain chemicals or radiation, and certain medical conditions, such as diabetes or thyroid disease.
What are the treatments for Brachydactyly type E?
1. Surgery: Surgery is the most common treatment for Brachydactyly type E. This involves lengthening the affected fingers or 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 E. This involves wearing a splint on the affected fingers or toes to help keep them in the correct position and prevent further deformity.
3. Physical Therapy: Physical therapy can help improve range of motion and strength in the affected fingers or toes.
4. Occupational Therapy: Occupational therapy can help improve the ability to perform daily activities with the affected fingers or toes.
5. Orthotics: Orthotics, such as braces or splints, can help support the affected fingers
What are the risk factors for Brachydactyly type E?
1. Family history of Brachydactyly type E
2. Genetic mutations
3. Maternal diabetes
4. Maternal smoking
5. Maternal alcohol consumption
6. Maternal drug use
7. Maternal malnutrition
8. Maternal exposure to radiation or certain medications
9. Maternal age over 35
10. Low birth weight
Is there a cure/medications for Brachydactyly type E?
At this time, there is no known cure for Brachydactyly type E. However, there are treatments available to help manage the condition. These include physical therapy, occupational therapy, and splinting. In some cases, surgery may be recommended to correct the deformity. Additionally, medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) may be prescribed to help reduce pain and inflammation.