What Are Symptoms and Risk Factors of Turner Syndrome?

Symptoms

Symptoms of Turner syndrome may vary depending on the conditions:

• Prenatal ultrasound of a baby with Turner syndrome may show large fluid collection on the back of the neck or other abnormal fluid collections (edema), heart abnormalities, or abnormal kidneys.
• Signs of Turner syndrome at birth or during infancy may include:
  • Wide or weblike neck
  • Low-set ears
  • Broad chest with widely spaced nipples
  • High, narrow roof of the mouth (palate)
  • Arms that turn outward at the elbows
  • Fingernails and toenails that are narrow and turned upward
  • Swelling of the hands and feet, especially at birth
  • Slightly smaller than average height at birth
  • Slowed growth
  • Cardiac defects
  • Low hairline at the back of the head
  • Receding or small lower jaw
  • Short fingers and toes
• Symptoms occur by birth or gradually during childhood, the teen years or young adulthood may include:
  • Slowed growth
  • No growth spurts at expected times in childhood
  • Adult height significantly less than might be expected for a female member of the family
  • Failure to begin sexual changes expected during puberty
  • Sexual development that “stalls” during teenage years
  • Early end to menstrual cycles not due to pregnancy
• For most women with Turner syndrome, inability to conceive a child without fertility treatment

Risk factors

The loss or alteration of the X chromosome occurs randomly. A problem with the sperm or the egg may lead to it. It may also happens early in fetal development. It is not inherited either.