Turner syndrome

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Symptoms

By Mayo Clinic staff

At birth or during infancy
Signs and symptoms of Turner syndrome may vary significantly. In some girls, a number of physical features and poor growth are apparent early. Signs and symptoms that may be apparent at birth or during infancy include:

  • Wide or web-like neck
  • Receding or small lower jaw
  • High, narrow roof of the mouth (palate)
  • Low-set ears
  • Low hairline at the back of the head
  • Drooping eyelids
  • Broad chest with widely spaced nipples
  • Short hands
  • Arms that turn outward at the elbows (cubitus valgus)
  • Fingernails turned upward
  • Swelling of the hands and feet, especially at birth
  • Slightly smaller than average height at birth
  • Delayed growth

In older girls, adolescents and young women
For some girls, the presence of Turner syndrome may not be readily apparent. Signs and symptoms in older girls, adolescents and young women that may indicate Turner syndrome include:

  • No growth spurts at expected times in childhood
  • Short stature, with an adult height of about 8 inches (20 centimeters) than might be expected for a female member of her family, without treatment
  • Learning disabilities, particularly with learning that involves spatial concepts or math
  • Difficulty in social situations, such as problems understanding other people's emotions or reactions
  • Failure to begin sexual changes expected during puberty — due to ovarian failure that may have occurred by birth or gradually during childhood, adolescence or young adulthood and which results in little or no estrogen and other hormone production
  • Sexual development that "stalls"
  • End to menstrual cycles not due to pregnancy
  • For most women with Turner syndrome, inability to conceive a child without fertility treatment

When to see a doctor
Most signs and symptoms of Turner syndrome aren't specific to this disorder. Therefore, it's important to get a prompt diagnosis and appropriate care. See your doctor if you believe your daughter shows any signs of Turner syndrome or if you have concerns about her physical, sexual or behavioral development.

References
  1. Learning about Turner syndrome. National Human Genome Research Institute. http://www.genome.gov/19519119. Accessed June 28, 2009.
  2. Hjerrild BE, et al. Turner syndrome and clinical treatment. British Medical Bulletin. 2008;86:77.
  3. Turner syndrome. National Institute of Child Health and Human Development. http://turners.nichd.nih.gov/clinical.html. Accessed June 28, 2009.
  4. Bondy CA. Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group. Journal of Clinical Endocrinology and Metabolism. 2007;92:10.
  5. Loscalzo ML. Turner syndrome. Pediatrics in Review. 2008;29:219.
  6. Morgan T. Turner syndrome: Diagnosis and management. American Family Physician. 2007;76:405.

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Aug. 22, 2009

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