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 fingers and toes
- 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
- Sensitivity to noise
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) less than might be expected for a female member of her family
- Learning disabilities, particularly with learning that involves spatial concepts or math, though intelligence is usually normal
- 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
- Sexual development that "stalls"
- Early 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 signs of Turner syndrome or if you have concerns about her physical, sexual or behavioral development.
Aug. 20, 2011
- Learning about Turner syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/turner-syndrome. Accessed June 28, 2011.
- Davenport ML. Approach to the patient with Turner syndrome. Journal of Clinical Endocrinology and Metabolism. 2010;95:1487.
- Saenger P. Clinical manifestations and diagnosis of Turner syndrome (gonadal dysgenesis). http://www.uptodate.com/home/index.html. Accessed June 28, 2011.
- Bondy CA. Turner syndrome 2008. Hormone Research. 2009;71(suppl):52.
- Clinical features of Turner syndrome. National Institute of Child Health and Human Development. http://turners.nichd.nih.gov/clinical.html. Accessed June 28, 2011.
- Loscalzo ML. Turner syndrome. Pediatrics in Review. 2008;29:219.
- Genetic features of Turner syndrome. National Institute of Child Health and Human Development. http://turners.nichd.nih.gov/genetic.html. Accessed June 28, 2011.
- Ross JL, et al. Growth hormone plus childhood low-dose estrogen in Turner's syndrome. New England Journal of Medicine. 2011;364:1230.
- Saenger P. Management of Turner syndrome (gonadal dysgenesis). http://www.uptodate.com/home/index.html. Accessed June 28, 2011.
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