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Turner Syndrome

For people with Turner syndrome (TS), their families, and expectant parents, TS is more than a medical condition. To varying degrees, expectations are changed, plans adjusted and lives of unanticipated challenges and rewards. We want this website – and specifically – this overview to help clarify what it means to live with Turner syndrome.

Great overview about Turner syndrome.

What is Turner Syndrome?

The definition of Turner syndrome (TS) is "a chromosomal condition that describes girls and women with common features, physical traits, and medical conditions caused by the complete or partial absence of the second sex chromosome.” In recent years, men and boys are receiving diagnoses of Turner syndrome and our organization recognizes their needs.

In the United States, although rare, biological males  are diagnosed with Turner syndrome. International experts agree that biological males should not be diagnosed with Turner syndrome but use their karyotype as their diagnosis. TSSUS welcomes and supports anyone with a TS diagnosis and their family.

It’s estimated that one female out of every 2,000 to 4,000 are born with Turner syndrome. Turner syndrome occurs in 1-2% of conceptions and, unfortunately, only 1% of those survive through pregnancy. We consider every child and adult with TS a real miracle.

TS occurs when all or part of one of the second sex chromosomes is missing or abnormal before or soon after conception. For example, most females have two X sex chromosomes (XX) and most males have one X and one Y sex chromosome (XY). In Turner syndrome, it’s important to understand that research has not discovered any factors related to the conception of a child with Turner syndrome, such as the age of a parent, ethnicity, diet, or activities during pregnancy. Please also refer to the Guide for Families, pages 3-6.

TS is most often diagnosed during pregnancy and infancy. Often when a child is not growing as expected or doesn’t have a period as expected, doctors investigate and discover TS. Although not as common, people are diagnosed in late teen and adulthood. If someone is over 50 years old and they believe they have TS, a doctor can run additional tests. Each person is unique and has some combination of common TS characteristics, health, and developmental conditions. Most people with TS believe that their lives would be different if they didn’t have TS but not necessarily better.

You'll find our stories insightful and inspiring. 

Some degree of the following conditions may be associated with TS:

Two women with Turner syndrome hugging. Women with TS are generally shorter than average.

Short Stature

Barb 4'6", Brooke 5'

Some women with Turner syndrome have a receding jaw.
Some women with Turner syndrome have a receding jaw.

Receding Jaw

Photo showing various teeth alignments of women with Turner syndrome.

Narrow Roof of the Mouth

Illustration showing knee alignments of women with Turner syndrome and women who do not have Turner syndrome.

Knees Turn Inward

Photo showing 4th toe evident in some women with Turner syndrome.

Short 4th toe

Photo showing broader chests of girls with Turner syndrome.

Broad chest

Photo showing forearm alignment of a girl with Turner syndrome.

Forearm angled out from body

Illustration showing Short bone under the 4th finger of person with Turner syndrome.

Short bone under the 4th finger

X-ray showing Short Neck due to underdeveloped spine.

Short Neck due to underdeveloped spine

Outer eye turns downward

a small skinfold where the eye meets the nose

Low Hairline


Skin folds (webbing) running down the neck to the shoulders

(Swelling due to build-up of fluid)

Keloid scarring
(Thick, raised scar)

Nail dysplasia
(Small, narrowed, angled or missing nails)

Some degree of the following conditions may also be associated with TS: 


  • re-curring middle ear infections

  • hearing loss

  • distinctive heart, liver, and kidney abnormalities

  • autoimmune disorders, such as underactive thyroid and celiac disease

  • difficulty with nonverbal communication skills, spatial relationships, such as driving or riding a bike, and executive functions


If you have a question or concern, please contact our office at 800-365-9944 or email  

A Typical Human Karyotype
Most Common Turner
Syndrome Karyotype (45X)
(One X chomosome
rather than two)
Turner syndrome action
  • If you are new to TS, welcome! Please contact us directly if you have questions or want to talk to someone about your personal needs.

  • To learn more about the health conditions and treatments related to TS please visit the Physical Health page.

  • To learn more about the genetics of TS, we have a great video.

  • We recommend the easy-to-read version of the Clinical Practice Guidelines for TS to get the big picture of the health needs related to TS.

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