About Fibular aplasia-ectrodactyly syndrome

What is Fibular aplasia-ectrodactyly syndrome?

Fibular aplasia-ectrodactyly syndrome (FAES) is a rare genetic disorder characterized by the absence of the fibula bone in the lower leg, as well as the fusion of certain digits on the hands and feet. It is caused by a mutation in the gene that codes for the protein fibroblast growth factor receptor 3 (FGFR3). Symptoms of FAES can include limb deformities, short stature, and hearing loss. Treatment typically involves physical therapy, orthopedic surgery, and hearing aids.

What are the symptoms of Fibular aplasia-ectrodactyly syndrome?

The symptoms of Fibular aplasia-ectrodactyly syndrome (FACES) vary from person to person, but may include:

-Underdeveloped or absent fibula bone in the lower leg
-Underdeveloped or absent tibia bone in the lower leg
-Underdeveloped or absent foot bones
-Underdeveloped or absent toes
-Underdeveloped or absent fingers
-Underdeveloped or absent thumb
-Underdeveloped or absent radius bone in the forearm
-Underdeveloped or absent ulna bone in the forearm
-Underdeveloped or absent wrist bones
-Underdeveloped or absent elbow joint
-Underdeveloped or absent shoulder joint
-Underdeveloped or absent clavicle bone
-Underdeveloped or absent scapula bone
-Underdeveloped or absent hip joint
-Underdeveloped or absent pelvis
-Underdeveloped or

What are the causes of Fibular aplasia-ectrodactyly syndrome?

Fibular aplasia-ectrodactyly syndrome is a rare genetic disorder caused by a mutation in the TP63 gene. This gene is responsible for the development of the limbs, face, and other organs. The mutation can be inherited from a parent or can occur spontaneously.

What are the treatments for Fibular aplasia-ectrodactyly syndrome?

There is no cure for Fibular aplasia-ectrodactyly syndrome, but there are treatments available to help manage the symptoms. These treatments may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and prosthetic devices. Additionally, genetic counseling may be recommended to help families understand the condition and its implications.

What are the risk factors for Fibular aplasia-ectrodactyly syndrome?

1. Genetic mutation: Fibular aplasia-ectrodactyly syndrome is caused by a mutation in the TP63 gene.

2. Family history: Having a family history of the condition increases the risk of developing Fibular aplasia-ectrodactyly syndrome.

3. Gender: Fibular aplasia-ectrodactyly syndrome is more common in males than females.

4. Ethnicity: Fibular aplasia-ectrodactyly syndrome is more common in individuals of African descent.

Is there a cure/medications for Fibular aplasia-ectrodactyly syndrome?

Unfortunately, there is no cure for Fibular aplasia-ectrodactyly syndrome. However, there are medications and treatments available to help manage the symptoms. These include physical therapy, occupational therapy, orthopedic surgery, and prosthetics. Additionally, medications such as pain relievers, muscle relaxants, and anticonvulsants may be prescribed to help manage pain and other symptoms.