About Brachydactyly type A6
What is Brachydactyly type A6?
Brachydactyly type A6 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 HOXD13 gene. Symptoms may include shortening of the middle phalanges of the fingers and toes, as well as a wide gap between the first and second toes.
What are the symptoms of Brachydactyly type A6?
The most common symptoms of Brachydactyly type A6 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 A6?
The exact cause of Brachydactyly type A6 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 inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is needed for a person to be affected by the condition.
What are the treatments for Brachydactyly type A6?
The treatment for Brachydactyly type A6 depends on the severity of the condition. In mild cases, no treatment may be necessary. In more severe cases, surgical options may be considered. These include bone lengthening procedures, tendon transfers, and joint fusion. In some cases, orthotic devices may be used to help improve the function of the affected hand or foot. Physical therapy may also be recommended to help improve range of motion and strength.
What are the risk factors for Brachydactyly type A6?
1. Family history of Brachydactyly type A6
2. Maternal diabetes
3. Maternal smoking
4. Maternal alcohol consumption
5. Maternal drug use
6. Maternal exposure to radiation
7. Maternal exposure to certain medications
8. Maternal malnutrition
9. Maternal obesity
10. Maternal age over 35
Is there a cure/medications for Brachydactyly type A6?
At this time, there is no known cure or medications for Brachydactyly type A6. Treatment typically involves surgical intervention to correct the deformity. Surgery may involve lengthening of the affected bones, tendon transfers, and/or joint reconstruction.