Basic Information/ Characteristics
Usually a person with this desease has a tall and slender build. Meaning long arms, legs, fingers and toes. One of the conditions of this is an abormally curved spine. Another condition of this desease is a inward or outward chest bone. This desease can cause blindness and make daily life very difficult. The life expectancy of a person with Marfan Syndrome is from age 40 through age 70.
Cause of Marfan Syndrome
Marfan syndrome is caused by a defect (mutation) in the gene that tells the body how to make fibrillin-1 a protein that is an important part of connective tissue. It effects chromosome number 15. the name of the gene is FBN1.
Possible treatments include lazer eye surgery. Also there is no found treatment for this desease.
Some people with Marfan syndrome have problems with the eyes, such as:
- Glaucoma (high pressure within the eye) at a young age
- Cataracts (the eye’s lens becomes cloudy)
- A shift in one or both lenses of the eye
- A detached retina in the eye.
Many people with Marfan syndrome have:
- Stretch marks on the skin. These are not a health problem.
- A hernia (part of an internal organ that pushes through an opening in the organ’s wall).