This narrative review suggests that a lack of or late diagnosis remains a critical problem in relation to KS. Whilst prenatal screening techniques may improve future diagnosis, current low levels of diagnosis remain problematic, particularly for the possibility of improving physical and mental health outcomes. This is particularly important as those with KS are reported to have poorer health outcomes than the general population across a range of measures, including quality of life and comorbidities result in a decreased life expectancy for those with the disorder. The perception that all persons with KS will demonstrate “textbook” signs is viewed as compromising the ability of patients to obtain a diagnosis