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About 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.

The definition of Turner syndrome (TS) is "a chromosomal condition that usually 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.

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, infancy, or early childhood but may be discovered at any age. 

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 their stories insightful and inspiring. 

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

Short Stature

Barb 4'6", Brooke 5'

Receding Jaw

Narrow Palate

Valgus Knee Alignment
(Middle-knock knees)

Short 4th Metatarsal
(4th toe)

Shield Chest
(Broad chest)

Short 4th Metacarpal
(4th finger)

Cubitus valgus
elbow alignment
(Forearm angled out from body)

Short Neck-Hypoplasia
(Underdeveloped spine)

Eyelids Turn Downwards

Epicanthal folds
(Inner eye skin fold)


Webbed Neck

(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)
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