Which condition is associated with features such as tall stature and long extremities?

Marfan syndrome is the condition associated with features such as tall stature and long extremities. This genetic disorder primarily affects the body’s connective tissue, which provides support and structure to various organs and tissues.

Individuals with Marfan syndrome typically exhibit a characteristic physique: they are usually tall with proportionally long arms, legs, fingers, and toes. This is due to the abnormal development of connective tissue which influences bone growth. Other common features of Marfan syndrome may include cardiovascular issues, such as aortic dilation or mitral valve prolapse, as well as ocular problems like lens dislocation.

In contrast, the other conditions listed do not typically present with the same physical characteristics. For example, Down syndrome involves distinct facial features and developmental delays rather than tall stature; Klinefelter syndrome often presents with taller-than-average height but also includes signs such as gynecomastia and infertility, rather than the long extremities seen in Marfan syndrome; and Ehlers-Danlos syndrome is characterized by hypermobility and skin fragility but does not necessarily manifest as tall stature or long limbs.