All You Need to Know About Fragile X Syndrome

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.

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