Turner Syndrome - Signs and Symptoms

Signs and Symptoms

Common symptoms of Turner syndrome include:

  • Short stature
  • Lymphedema (swelling) of the hands and feet
  • Broad chest (shield chest) and widely spaced nipples
  • Low hairline
  • Low-set ears
  • Reproductive sterility
  • Rudimentary ovaries gonadal streak (underdeveloped gonadal structures that later become fibrosed)
  • Amenorrhoea, or the absence of a menstrual period
  • Increased weight, obesity
  • Shield shaped thorax of heart
  • Shortened metacarpal IV
  • Small fingernails
  • Characteristic facial features
  • Webbed neck from cystic hygroma in infancy
  • Coarctation of the aorta
  • Bicuspid aortic valve
  • Poor breast development
  • Horseshoe kidney
  • Visual impairments sclera, cornea, glaucoma, etc.
  • Ear infections and hearing loss
  • High waist-to-hip ratio (the hips are not much bigger than the waist)
  • Attention Deficit/Hyperactivity Disorder or ADHD (problems with concentration, memory, attention with hyperactivity seen mostly in childhood and adolescence)
  • Nonverbal Learning Disability (problems with math, social skills and spatial relations)

Other features may include a small lower jaw (micrognathia), cubitus valgus (turned-in elbows), soft upturned nails, palmar crease, and drooping eyelids. Less common are pigmented moles, hearing loss, and a high-arch palate (narrow maxilla). Turner syndrome manifests itself differently in each female affected by the condition, and no two individuals will share the same features.

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