Turner Syndrome

What is turner syndrome?

Turner syndrome is a genetic condition, where instead of 2X chromosomes which are usually present in a girl, there is 1X chromosome or part of it is missing.

What are the symptoms?

Findings in infancy that may suggest Turner syndrome include:

  • Puffy hands and feet
  • Extra folds of skin over neck or swelling of lymph vessels in the neck
  • Heart abnormalities, particularly coarctation of the aorta

Signs of Turner syndrome leading to diagnosis in childhood may include:

  • Short stature (seen in all patients)
  • Webbing of neck
  • Low hairline at the back of the head
  • An angle at the elbows when the arms are stretched out
  • Frequent ear infections and hearing problems
  • Failure of puberty to start by age 13 years

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