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.

El síndrome de Turner (ST) ocurre en aproximadamente uno de cada 2.000 a 4.000 nacimientos vivos de mujeres. Es una condición cromosómica que describe a niñas y mujeres con características comunes, rasgos físicos y condiciones médicas causadas por la ausencia total o parcial del segundo cromosoma sexual. El ST fue descrito por primera vez en los Estados Unidos en 1938 por el Dr. Henry Turner.

En el nivel básico, el material genético que falta impide que el cuerpo femenino crezca y madure de forma natural. El síndrome de Turner es variable y cada niña y mujer tendrá necesidades y características de salud únicas. La mayoría de las niñas y mujeres tienen dos cromosomas X completos (los cromosomas sexuales de las mujeres). El síndrome de Turner es causado por la ausencia total o parcial del segundo cromosoma sexual en algunas o todas las células del cuerpo. Las características más consistentes del ST son la baja estatura y la falta de desarrollo ovárico; sin embargo, existen otros síntomas y características que pueden aparecer en diversos grados, dependiendo de la composición genética única de cada persona.

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'

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

Short bone under the 4th finger

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

Lymphedema
(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