Turner syndrome is a disorder caused by a partially or completely missing X chromosome. This condition affects only females.

Most people have 46 chromosomes in each cell-23 from their mother and 23 from their father. The 46 chromosomes are coupled into 23 pairs. The 23rd pair of chromosomes are called the sex chromosomes -X and Y- because they determine whether a person is male or female. Females have two X chromosomes (XX) in most of their cells, and males have one X chromosome and one Y chromosome (XY) in most of their cells.

Turner syndrome most often occurs when a female has one normal X chromosome (45th), but the other X chromosome (46th) is missing - 45X. Other forms of Turner syndrome result when one of the two chromosomes is partially missing or structurally abnormal or there is Y material present. (Mosaic)

This disorder occurs in about 1 in every 2,000-4,000 live births worldwide and they are the 1% who survive.

It affects all races and regions of the world equally. Generally, Turner syndrome is not passed on from mother to child. 

Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects. In most cases, girls/women with Turner syndrome are infertile.

Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen years - when puberty is delayed. 

Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead healthy, independent lives. - www.mayoclinic.org

Symptoms and Characteristics of TS

The specific karyotype (genetic makeup of the chromosomes) does not always predict the appearance or medical symptoms of a person with TS. (source: www.turnersyndrome.org)

Other characteristics:

  • neck webbing ( short, thick neck)

  • short stature

  • delayed puberty

  • infertility

  • lymphedema (puffy hands and feet)

  • turned up nails

  • short roots of teeth

The specific karyotype (genetic makeup of the chromosomes) does not always predict the appearance or medical symptoms of a person with TS.

​​Medical concerns:

  • chronic middle ear infections

  • hearing loss

  • distinctive heart, liver, and kidney abnormalities

  • autoimmune disorders, such as under active thyroid 

  • difficulty with nonverbal communication skills, spatial relationships, such as driving or riding a bike, and executive functions

Facial appearance, such as:

  • down-turning eyelids

  • low-set and prominent ears

  • small jaw

  • high, narrow roof of mouth

TURNER SYNDROME  (February is awareness month!)

RESOURCES

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TS Clinic - Birmingham, Alabama

Disclaimers

The resources provided on this site are for general information only and are not intended to be a substitute for professional medical advice, diagnosis, or treatment. Belles and Butterflies does not endorse any medical product, treatment protocol or service or provide medical advice to patients or their loved ones, nor is it responsible for material you find on other sites. Users of these resources should not rely exclusively on the information provided, as information about health care changes constantly. All specific medical questions should be discussed with your health care provider.