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Fragile X Syndrome

 

Fragile X Syndrome is a genetic defect causing a number of intellectual, behavioral and emotional difficulties.

Causes

  • Mutation of FMR1 gene found on the X chromosome
  • Heredity

Symptoms
Symptoms vary from person to person and may include:

  • Elongated face
  • Large ears
  • Prominent forehead
  • Flat feet
  • Large testicles
  • Defects in the heart valves or vessels
  • Strabismus
  • Middle ear infections
  • Hyperextensible joints
  • Premature ovarian failure (POF)
  • Developmental delays
  • Difficulty with balance
  • Learning disabilities
  • Attention deficit hyperactivity disorder (ADHD)
  • Speech and language problems
  • Social anxiety
  • Autistic behavior
  • Seizures

Treatment
There is no cure for this syndrome but it can be managed by:

  • Behavioral therapy
  • Speech and language therapy
  • Occupational therapy
  • Special education
  • Medication for seizures, hyperactivity and other behavioral symptoms
  • Surgical correction of heart defects

Prevention
There is no way to prevent this syndrome.