What is a key physical finding associated with Fragile X syndrome?

A key physical finding associated with Fragile X syndrome is the long face with a large jaw and prominent ears. This distinctive facial feature is particularly characteristic of individuals with this genetic condition, which is caused by a mutation in the FMR1 gene. The facial features often become more pronounced with age, and they serve as an important clinical indicator for diagnosis.

Individuals with Fragile X syndrome may also exhibit other physical features, but the long face, protruding jaw, and large ears stand out as hallmark traits. This syndrome is often associated with developmental delays and intellectual disabilities, making the recognition of these physical features a crucial aspect of clinical assessment. The emphasis on these characteristic facial features can aid healthcare professionals in the early identification and management of the condition.