Turner syndrome is a genetic disorder that affects development in females. Females typically have two X chromosomes, but in individuals with Turner syndrome, one of the X chromosomes is missing or partially missing. This missing genetic material affects development before and after birth. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop, and heart defects.

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

Turner syndrome may be diagnosed before birth (prenatally), during infancy, or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. Girls and women with Turner syndrome will need to have their heart, kidneys, and reproductive system checked regularly throughout their lives. There is no cure for Turner syndrome, but many of the associated symptoms can be treated. With appropriate medical treatment and support, a girl or woman with Turner’s syndrome can lead a normal, healthy, and productive life.