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In Fragile X disorder, which physical characteristics can be present?

  1. Shortening of limbs

  2. Poor eyesight

  3. Long and narrow face with large ears

  4. Wide and flat facial features

The correct answer is: Long and narrow face with large ears

In Fragile X disorder, individuals often display distinctive physical characteristics, one of which is a long and narrow face accompanied by large ears. This morphological feature is a significant indicator of Fragile X and is linked to the genetic mutation that causes the disorder. The increase in facial length and the prominence of the ears can often be noted during physical examinations, making them key features for clinicians when assessing for potential Fragile X syndrome. Other characteristics associated with Fragile X may include hyper-flexible joints and larger-than-average testicles in males, but the long, narrow face with large ears is one of the most distinctive traits. This can help differentiate Fragile X from other genetic conditions, guiding further diagnosis and management strategies. Understanding these physical traits is crucial for healthcare providers in identifying Fragile X disorder early, as early intervention can significantly improve outcomes for individuals with the condition.