top of page

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.

Read some of the insightful and inspiring stories of our members 

Some degree of the following physical characteristics are associated with TS:

Short Stature

Barb 4'6", Brooke 5'

Receding Jaw

Narrow Palate

Valgus Knee Alignment
(Middle)

Short 4th Metatarsal

Shield Chest

Short 4th Metacarpal

Cubitus valgus
elbow alignment

Short Neck-Hypoplasia

Eyelids Turn Downwards

Epicanthal folds
(inner eyes)

Low
Hairline

Webbed Neck

Lymphedema

Keloid scarring

Nail dysplasia - 
right finger

Some degree of the following conditions are associated with TS: 

 

  • chronic 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 info@turnersyndrome.org  

A Typical Human Karyotype
A Turner Syndrome Karyotype (45X)
bottom of page