Turner Syndrome is one of the rare diseases that affect only women. It is caused by abnormalities in one of the X-chromosomes, and has a number of symptoms, including short stature and the presence of a webbed neck. While Turner syndrome symptoms may be apparent at birth, the condition often isn't diagnosed until puberty. The characteristic short stature may be overlooked, and the girl is just presumed to be shorter than average. As with other rare diseases, most people have never heard of Turner Syndrome, so the warning signs are often missed.


Humans have 23 pairs of chromosomes, which contain all of our genetic information. Men are distinguished from women by having one pair of chromosomes consisting of a single "X" and a single "Y" chromosome. Women on the other hand normally have two X-chromosomes. .

In women suffering from Turner Syndrome, some of the genetic material on one of these chromosomes is missing, or an entire X chromosome may be missing. The exact cause of the disease isn't known but it is thought to be a random occurrence affecting approximately one out every 2,000 live female births. .

Male fetuses that miss the X chromosome don't survive. A Y chromosome can't function on its own. A single X chromosome can survive, however, and the resulting child is a girl with Turner Syndrome.

Turner Syndrome can affect the body in many ways. The most common physical symptoms are a short body stature and a "webbed neck" appearance. Because of disruptions to many important hormones, young women often experience a delay in menstruation and other events associated with puberty.


Short stature is one of the defining characteristics of Turner Syndrome, as the gene responsible for long bone growth is missing. The average woman with Turner Syndrome reaches a height of 4 feet 8 inches. If growth hormones are administered early in childhood, some women may grow slightly taller, but any new growth varies among individuals.