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Which characteristic is most commonly associated with Fragile X disorder?

  1. Short stature with a wide neck

  2. Long, narrow face with prominent forehead and chin

  3. Small hands and feet

  4. High arched palate

The correct answer is: Long, narrow face with prominent forehead and chin

The characteristic most commonly associated with Fragile X disorder is a long, narrow face with a prominent forehead and chin. This distinctive facial appearance emerges due to the genetic mutation in the FMR1 gene, which leads to the cognitive and physical features observed in individuals with Fragile X syndrome. Facial features are often key diagnostic indicators, and the prominence of the forehead and chin along with the overall elongated facial structure are seen frequently in affected individuals. These physical traits may become more pronounced as a person ages, contributing to the recognizability of Fragile X syndrome. In contrast, the other characteristics listed, such as short stature with a wide neck, small hands and feet, and high arched palate, are not typically associated with Fragile X disorder. They may be observed in other genetic or developmental conditions but do not define the signature profile of Fragile X syndrome. Understanding these specific characteristics helps healthcare providers make appropriate assessments and diagnoses for those presenting with potential Fragile X features.