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Turner Syndrome

Turner syndrome is named after Henry Turner, an American doctor. He was the first to identify features of girls with the syndrome in 1938. Turner syndrome is caused by a missing X chromosome or a missing part of one of the X chromosomes that affect physical sex development, height, and other characteristics.

Well, what does it mean if the doctor says that your daughter has short stature caused by Turner syndrome? It means that your child is shorter than average for her age group.

There are many reasons for a child to be shorter than average. In some cases, a child is short simply because being short runs in the family. In other cases, a child may be short because of a genetic disorder that affects growth.

If your daughter is shorter than average, she may be seen by an endocrinologist. This doctor is a specialist who is trained to diagnose and treat children with growth problems. An endocrinologist will perform an evaluation to find the cause of short stature. If there is a medical condition, the doctor can suggest medicines that may help the child grow.

Features of Turner syndrome

Some of the common physical traits and conditions of Turner syndrome are:

  • Short stature
  • Heart defects
  • Ovarian failure resulting in failure to progress through puberty at a normal age
  • Short neck with a webbed appearance
  • Low hairline at the back of the neck
  • Differently shaped, low-set ears
  • High arched palate
  • Small jaw
  • Broad chest
  • Larger number of moles on the skin
  • Drooping eyelids
  • Lymphedema (puffy hands and feet)

Some girls with Turner syndrome have only a few of these traits. Most have ovarian failure, in which the ovaries do not work properly. Because of this, puberty will generally not occur on its own. Nearly all have short stature.

A girl with Turner syndrome may have legs that are a little shorter than her trunk. On average, the adult height of a woman with Turner syndrome is 4 feet, 8 inches. A few women may reach a height of 5 feet.

Like many people with short stature, girls and women with Turner syndrome often find it difficult to keep their weight in a healthy range for their height. Therefore, monitoring weight closely and encouraging exercise and healthy food choices from an early age is important.