About Fibular aplasia-complex brachydactyly syndrome

What is Fibular aplasia-complex brachydactyly syndrome?

Fibular aplasia-complex brachydactyly syndrome is a rare genetic disorder characterized by the absence of the fibula bone in the lower leg, shortening of the fingers and toes, and other skeletal abnormalities. It is caused by a mutation in the FGFR3 gene. Symptoms may include short stature, short fingers and toes, and a curved spine. Treatment is supportive and may include physical therapy, orthopedic surgery, and bracing.

What are the symptoms of Fibular aplasia-complex brachydactyly syndrome?

The symptoms of Fibular aplasia-complex brachydactyly syndrome include:

-Short stature
-Shortening of the fibula bone in the lower leg
-Shortening of the fingers and toes
-Underdeveloped or absent thumb
-Underdeveloped or absent big toe
-Underdeveloped or absent kneecap
-Underdeveloped or absent ankle joint
-Underdeveloped or absent heel bone
-Underdeveloped or absent calf muscles
-Flat feet
-Hip dislocation
-Scoliosis
-Joint contractures
-Intellectual disability
-Seizures
-Hearing loss
-Vision problems
-Heart defects
-Kidney abnormalities

What are the causes of Fibular aplasia-complex brachydactyly syndrome?

Fibular aplasia-complex brachydactyly syndrome is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein called fibroblast growth factor receptor 3, which is involved in the development of bones and other tissues. Mutations in this gene can lead to the abnormal development of the fibula, as well as other skeletal abnormalities.

What are the treatments for Fibular aplasia-complex brachydactyly syndrome?

There is no known cure for Fibular aplasia-complex brachydactyly syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy to help improve mobility, orthopedic surgery to correct any skeletal deformities, and occupational therapy to help with daily activities. In some cases, hearing aids may be recommended to improve hearing. Additionally, genetic counseling may be recommended for families affected by the condition.

What are the risk factors for Fibular aplasia-complex brachydactyly syndrome?

1. Genetic mutation: Fibular aplasia-complex brachydactyly syndrome is caused by a mutation in the gene known as GDF5.

2. Family history: Individuals with a family history of the disorder are at an increased risk of developing Fibular aplasia-complex brachydactyly syndrome.

3. Gender: The disorder is more common in males than females.

4. Ethnicity: Fibular aplasia-complex brachydactyly syndrome is more common in individuals of Asian descent.

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

Unfortunately, there is no cure for Fibular aplasia-complex brachydactyly syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, orthopedic surgery, and medications to manage pain and other symptoms.