About Brachydactyly type C
What is Brachydactyly type C?
Brachydactyly type C 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 of this disorder include shortening of the fingers and toes, as well as a wide gap between the first and second toes. In some cases, the nails may be abnormally shaped or curved.
What are the symptoms of Brachydactyly type C?
The symptoms of Brachydactyly type C include shortening of the middle phalanges of the fingers and toes, as well as a wide gap between the first and second toes. Other symptoms may include a wide gap between the first and second fingers, a wide gap between the second and third fingers, and a wide gap between the third and fourth fingers. Additionally, the nails may be abnormally shaped or curved.
What are the causes of Brachydactyly type C?
Brachydactyly type C is a rare genetic disorder caused by mutations in the FGFR3 gene. It is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary for a person to be affected by the disorder. Other causes of Brachydactyly type C include environmental factors, such as exposure to certain chemicals or radiation, and chromosomal abnormalities.
What are the treatments for Brachydactyly type C?
1. Surgery: Surgery is the most common treatment for Brachydactyly type C. 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 C. This involves wearing a splint on the affected fingers or 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 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 or toes
What are the risk factors for Brachydactyly type C?
1. Family history of Brachydactyly type C
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. Premature birth
10. Low birth weight
Is there a cure/medications for Brachydactyly type C?
At this time, there is no known cure for Brachydactyly type C. 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.