USMLE (United States Medical Licensing Examination) Step 1 Practice Exam 2026 - Free USMLE Step 1 Practice Questions and Study Guide

Turner syndrome is a genetic disorder resulting from the partial or complete absence of one X chromosome in females, which often leads to a distinctive set of physical features. One of the hallmark characteristics of Turner syndrome is the presence of a webbed neck, which refers to a broad neck that has skin folds extending from the tops of the shoulders to just below the jaw. This feature results from lymphatic abnormalities and is commonly noted during physical examination of individuals with the condition.

In addition to a webbed neck, it is important to recognize that short stature is also a well-documented characteristic of Turner syndrome. While many individuals with Turner syndrome are shorter than their peers, the most prominent and recognizable feature often highlighted in medical examinations is the webbed neck. Other associated features such as cardiovascular abnormalities and ovarian dysgenesis further emphasize the complexity of this syndrome but do not overshadow this classic presentation.

The choice of long extremities is typically associated with other conditions, such as Marfan syndrome, rather than Turner syndrome. Gynecomastia is primarily a feature seen in males with Klinefelter syndrome, and while short stature is prevalent in Turner syndrome, the webbed neck remains the defining characteristic often emphasized in clinical teachings.