
Fragile X syndrome (FXS) is a genetic disorder that affects a person’s development, learning, and behavior. It’s the most common inherited cause of intellectual disability.
Symptoms:
- Developmental delays
- Learning disabilities
- Social and behavioral problems
- Anxiety
- Depression
- Obsessive-compulsive behaviors
- Sensory processing challenges
- Sleep disorders
- Increased risk for aggression
Physical features:
- Large ears
- Long, narrow face
- Large forehead
- Large jaw
- Crossed eyes (strabismus)
- Flat feet
- Enlarged testicles after puberty
- High-arched palate
- Low muscle tone (hypotonia)
Inheritance:
FXS is inherited in an X-linked dominant pattern. This means that a mutation in the FMR1 gene on the X chromosome causes the disorder. Males usually have more severe symptoms than females.
Treatment:
There is no known cure for FXS, but a medical professional can help manage symptoms and improve quality of life. Therapy can help with learning disabilities.