What is a distinctive physical feature of a child with Fragile X syndrome?

What is a distinctive physical feature of a child with Fragile X syndrome?

• A. Small hands and feet
• B. Long face with large ears
• C. Broad forehead and short stature
• D. Crossed eyes and curly hair

Answer: (B)

Children with Fragile X syndrome often exhibit a distinctive facial gestalt that includes a long, narrow face and enlarged ears. This characteristic facial appearance is one of the hallmarks of the condition and can become more pronounced as the individual ages. The elongated facial structure and prominent ears are due to the underlying genetic abnormalities associated with Fragile X syndrome, which is caused by a mutation in the FMR1 gene located on the X chromosome. The other physical features provided in the options do not correlate with Fragile X syndrome. Small hands and feet, a broad forehead, short stature, crossed eyes, and curly hair are not typical indicators of this condition. Instead, the long face with large ears serves as a more specific and recognized physical characteristic linked to the disorder, aiding in both diagnosis and identification within affected populations.

Children with Fragile X syndrome often exhibit a distinctive facial gestalt that includes a long, narrow face and enlarged ears. This characteristic facial appearance is one of the hallmarks of the condition and can become more pronounced as the individual ages. The elongated facial structure and prominent ears are due to the underlying genetic abnormalities associated with Fragile X syndrome, which is caused by a mutation in the FMR1 gene located on the X chromosome.

The other physical features provided in the options do not correlate with Fragile X syndrome. Small hands and feet, a broad forehead, short stature, crossed eyes, and curly hair are not typical indicators of this condition. Instead, the long face with large ears serves as a more specific and recognized physical characteristic linked to the disorder, aiding in both diagnosis and identification within affected populations.