Symptoms

Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, a number of physical features and poor growth are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects.

Before birth

Turner syndrome may be suspected prenatally based on prenatal cell-free DNA screening ? a method to screen for certain chromosomal abnormalities in a developing baby using a blood sample from the mother ? or prenatal ultrasound. 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
• Abnormal kidneys

At birth or during infancy

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

In childhood, teens and adulthood

The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure that may have occurred by birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these 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

When to see a doctor

Sometimes it's difficult to distinguish the signs and symptoms of Turner syndrome from other disorders. It's important to get a prompt, accurate diagnosis and appropriate care. See your doctor if you have concerns about physical or sexual development.