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.
Some degree of the following conditions may be associated with TS:
Barb 4'6", Brooke 5'
Valgus Knee Alignment
Short 4th Metatarsal
Short 4th Metacarpal
(Forearm angled out from body)
Eyelids Turn Downwards
(Inner eye skin fold)
(Swelling due to build-up of fluid)
(Thick, raised scar)
(Small, narrowed, angled or missing nails)
Some degree of the following conditions may also be associated with TS:
re-curring middle ear infections
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 firstname.lastname@example.org