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Turner Syndrome Symptoms

The Most Common Characteristics of TS

Turner syndrome (TS) was first described in 1938, when Dr. Henry Turner observed a group of girls who all had the same unique physical features—short height, webbed necks, and undeveloped sex features. Because Dr. Turner could see these features, they aren't truly symptoms—they are signs.

Symptoms and signs have subtle differences, but an easy way to tell the two apart is that symptoms can only be recognized by the person with the illness. For example, pain is a symptom—it's a sensation only the person experiencing it can feel. Signs, on the other hand, can be observed by someone else. Swollen hands, for instance, is a sign.

With Turner syndrome, certain physical signs will alert a doctor to the possibility that you or your child has the condition. These include:

  • short stature: This is the most common sign of TS—the average height of girls with Turner syndrome (who haven't been treated with growth hormone) is 4 ft 8 in.
  • undeveloped sex features: This includes lack of breast development, delayed menstruation, and undeveloped feminine body shape.
  • mouth and jaw abnormalities: Girls with TS may have high-arched roof of mouth, crowded teeth, and a receding lower jaw.
  • broad chest
  • droopy eyes
  • low-set ears
  • webbed neck: This is extra skin around the neck.
  • low hairline: In girls with TS, their hair extends down back of the neck toward the shoulders.
  • fingernails and toenails that point slightly upward
  • swollen hands and feet: This sign is usually present only at birth.
  • increased angulation at the elbow

About half of girls who have TS receive a Turner syndrome diagnosis at birth because they show obvious physical signs of the condition. However, that's not the case with everyone. Some girls don't show signs of TS until later in childhood. To a lesser extent, some even experience a normal puberty and have such subtle signs that they may not be diagnosed with Turner syndrome until adulthood.

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The Cause of Turner Syndrome
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