For patients with Turner syndrome (TS), their families, and for expectant parents TS is much more than a syndrome. To varying degrees, it is expectations 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 chromosome 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 chromosomes (XY). In Turner syndrome.
It’s important to understand that research has not discovered any factors related to the conception of achild with Turner syndrome, such as the age of a parent, ethnicity, diet, or activities during pregnancy. (Link to “Genetic Basis for Turner Syndrome Patients and Families”) Please also refer to the Guide for Families, pages 3-6.
TS is most often diagnosed during pregnancy, in 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 physical characteristics are associated with TS:
Barb 4'6", Brooke 5'
Valgus Knee Alignment
Short 4th Metatarsal
Short 4th Metacarpal
Eyelids Turn Downwards
Nail dysplasia -
Some degree of the following conditions are associated with TS:
chronic 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