Symptoms and Characteristics
The way that Fragile X syndrome affects people will vary. Girls and women are usually less affected than boys and men. A person may be fully affected by Fragile X but not show all of these signs.
- Behavioural and Emotional features
- Anxiety and shyness
- Attention Deficit Hyperactivity Disorder (ADHD)
- Autistic type behaviours
- Difficulty with eye contact
- Tactile defensiveness
- Repetitive speech
- Developmental features
- Intellectual disability
- Learning difficulties
- Developmental delay
- Speech and communication difficulties
- Difficulty with coordination
- Difficulty with fine and gross motor skills
- Physical features
- Physical features may be subtle or not present they can include
- Low muscle tone and loose joints
- Long narrow face, prominent ears (in older males)
- High palate
- Large testicles (in post pubescent males)
- Mitral valve prolapse – heart murmur
People who are carriers
People who are carriers of the Fragile X gene often have high levels of anxiety.
Women who are carriers may experience FXPOI or Fragile X-associated primary ovarian insufficiency which causes early menopause.
Men and women who are carriers can also develop FXTAS or Fragile X-associated Tremor Ataxia syndrome. Men are more likely to develop FXTAS than women and it usually develops after the age of 50. It can affect balance and memory, and cause tremors and other neurological problems.