Characteristics/Symptoms

Common features of MEPC2 duplication syndrome in boys (NOTE: not all boys with MECP2 will have all of these features and only rarely will girls have any of these features)

  • Significant intellectual disability (100%) with limited or absent speech.
    • Some may experience developmental regression
  • Early onset hypotonia (low muscle tone) with slow motor development
    •  Sitting, crawling, and walking are very delayed or challenging
    • 2/3 of boys may be able to walk
  • Progressive spasticity of the lower limbs (usually more in legs than arms)
    • Ataxia (uncoordinated movement - particularly with walking)
    • 75% get infections easily and often
    • Most likely occur as recurrent respiratory infections
  • Seizures occur in 50%
  • Autistic-like behaviors may be present
    •  Repetitive movements of hands
    • Teeth grinding
  • Gastrointestinal dysfunction may be present
    • Constipation
    • Reflux
    • Bladder issues
  • Mild facial differences
    • Flat head
    • Underdevelopment of the middle of the face
    • Large ears
    • Flat nasal bridge