Fragile X syndrome is a genetic condition which is caused by a change in a gene that is inherited at the time of conception. This gene, called the FMR1 gene is found on the X chromosome. When this gene change occurs the FMR1 gene does not work properly. The FMR1 gene is responsible for making a protein that is important in brain development. Therefore when the gene is not working properly brain function including learning, behavior and communication is affected.
Characteristics of fragile X syndrome can include:
- Attention problems
- Hand flapping
- Delayed development
- Long, narrow face
- Delayed speech
- Prominent ears & forehead
- Poor eye contact
- Large testicles
Note that physical features may not develop until puberty and that some individuals may not exhibit these characteristics.