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.