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In children with Fragile X disorder, intellectual disabilities are a primary characteristic that often accompanies recognizable physical traits. Fragile X syndrome is a genetic condition that results from a mutation in the FMR1 gene, which is crucial for normal cognitive development. Children with this disorder frequently exhibit varying degrees of intellectual disability, from mild to moderate, and may also show learning difficulties and behavioral challenges.
The physical traits associated with Fragile X syndrome include a long face, large ears, a prominent jaw, and macroorchidism (enlarged testicles in males). These physical features tend to become more pronounced with age, further linking them to the cognitive aspects of the disorder.
While hearing impairment, marked delays in motor skills, and frequent seizures are concerns that might appear in other conditions or even occasionally in individuals with Fragile X, they do not have the same established relationship with Fragile X as the cognitive impairment does. Intellectual disabilities are a consistent hallmark of Fragile X syndrome, making them the standout feature that occurs alongside its physical traits.