About Congenital Contractural Arachnodactyly
What is Congenital Contractural Arachnodactyly?
Congenital Contractural Arachnodactyly (CCA) is a rare genetic disorder that affects the connective tissue in the body. It is characterized by joint contractures, long and thin fingers and toes, and a tall, thin body type. People with CCA may also have a curved spine, a sunken chest, and a high-arched palate. CCA is caused by a mutation in the FBN1 gene, which is responsible for producing the protein fibrillin-1. This protein is important for the formation of connective tissue, and when it is not produced correctly, the connective tissue in the body is weakened.
What are the symptoms of Congenital Contractural Arachnodactyly?
The symptoms of Congenital Contractural Arachnodactyly (CCA) include:
-Tight, contracted joints
-Long, thin fingers and toes
-Abnormal curvature of the spine
-Highly arched feet
-Tall, slender body build
-Abnormal facial features
-Abnormal eye movements
What are the causes of Congenital Contractural Arachnodactyly?
Congenital Contractural Arachnodactyly (CCA) is a rare genetic disorder that affects the connective tissue in the body. The exact cause of CCA is unknown, but it is believed to be caused by a mutation in the FBN2 gene. This gene is responsible for producing a protein called fibrillin-2, which is essential for the formation of connective tissue. Other possible causes of CCA include environmental factors, such as exposure to certain toxins or medications, or a combination of genetic and environmental factors.
What are the treatments for Congenital Contractural Arachnodactyly?
1. Physical therapy: Physical therapy can help to improve range of motion and strength in affected joints.
2. Surgery: Surgery may be recommended to correct joint deformities or to release tight tendons.
3. Splinting: Splinting can help to maintain joint position and prevent contractures.
4. Orthotics: Orthotics can be used to support weakened joints and reduce pain.
5. Medications: Nonsteroidal anti-inflammatory drugs (NSAIDs) may be prescribed to reduce pain and inflammation.
What are the risk factors for Congenital Contractural Arachnodactyly?
1. Genetic mutation: Congenital Contractural Arachnodactyly is caused by a genetic mutation in the FBN2 gene.
2. Family history: Having a family history of the condition increases the risk of developing Congenital Contractural Arachnodactyly.
3. Gender: Females are more likely to be affected by Congenital Contractural Arachnodactyly than males.
4. Ethnicity: Congenital Contractural Arachnodactyly is more common in people of Middle Eastern and North African descent.
Is there a cure/medications for Congenital Contractural Arachnodactyly?
At this time, there is no known cure for Congenital Contractural Arachnodactyly (CCA). However, there are medications and treatments that can help manage the symptoms of CCA. These include physical therapy, occupational therapy, braces, splints, and medications to reduce pain and inflammation. Surgery may also be recommended in some cases.