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Physical Characteristics

80% of individuals with Fragile X will have one or more of the physical features of the syndrome, but their presence varies with age and sex. Physical features are more pronounced with age. In females, physical features occur in lower frequencies and milder forms.  

Some people believe that the descriptions of physical characteristics of a syndrome are not helpful to individuals; however, we believe that knowing the physical characteristics is important.  To read about why we have included physical characteristics on this website go to the key topics area and select 'physical characteristics' from the drop down menu. 


Physical Features

The most common physical features are:

  • Large and prominent ears - tends not to be present pre-puberty 
  • A long narrow face - tends not to be present pre-puberty
  • Prominent jaw in adults 
  • Macroorchidism (large testicles) - present in over 80% of adult males and does not affect fertility
  • Velvet-like skin 
  • Hyperextensible finger joints 
  • High-arched palate
  • Flat feet 
  • Pectus excavatum (sunken chest)
  • Top part of the ear may not curve over and may be flat
  • Short stature in adulthood 

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