Which genetic condition commonly presents with developmental delay and intellectual disability, particularly in males?

Fragile X syndrome is a genetic condition that is notably linked to developmental delay and intellectual disability, especially in males. It is caused by a mutation in the FMR1 gene on the X chromosome, which leads to a variety of neurological and behavioral symptoms. Males are generally more severely affected than females, primarily because they have only one X chromosome, while females have two, which may mitigate some of the effects due to the presence of a normal allele on the other X chromosome.

Children with Fragile X syndrome often exhibit features such as speech and language delays, social anxiety, and challenges with attention. The intellectual disability associated with Fragile X can range from mild to moderate, and a significant number of individuals may also display characteristics of autism spectrum disorders. This connection to developmental and intellectual challenges makes Fragile X syndrome a common condition considered in pediatric neurology.

Other conditions, while also associated with developmental delays, differ in their prevalence or demographic impact. For instance, Down syndrome is a chromosomal disorder that affects individuals of all sexes equally, and Turner syndrome predominantly affects females and is characterized more by physical features and secondary complications than by intellectual disability. Williams syndrome, while it involves developmental concerns, does not have the same prevalence rates of intellectual disability specifically related to