Arachnodactyly is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. This protein is essential for the formation of elastic fibers, which provide strength and elasticity to connective tissue. Mutations in the FBN1 gene lead to the production of abnormal elastic fibers, which can result in a number of health problems, including:
* Skeletal problems: People with arachnodactyly may have joint pain, curvature of the spine (scoliosis), and a sunken chest (pectus excavatum).
* Eye problems: People with arachnodactyly may have nearsightedness (myopia), astigmatism, and dislocation of the lenses in their eyes.
* Cardiovascular problems: People with arachnodactyly are at increased risk for aortic aneurysm, a condition in which the aorta (the main artery in the body) becomes enlarged and weakened.
Arachnodactyly is a rare condition, affecting about 1 in 5,000 people. It is typically inherited in an autosomal dominant manner, which means that only one copy of the affected gene is needed to cause the condition. However, some cases of arachnodactyly are caused by new mutations in the FBN1 gene.
There is no cure for arachnodactyly, but treatment can help to manage the symptoms and prevent complications. Treatment may include:
* Physical therapy: To help strengthen muscles and improve joint mobility
* Braces: To support the spine and prevent scoliosis
* Eye surgery: To correct vision problems
* Medication: To lower blood pressure and reduce the risk of aortic aneurysm
With proper treatment, people with arachnodactyly can live full and productive lives.