Turner syndrome

Also known as: 45,X; monosomy X; TS; Turner's syndrome; Ullrich-Turner syndrome


Genetics Home Reference

Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood.

About 30 percent of females with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One third to one half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery leaving the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta with the heart (the aortic valve). Complications associated with these heart defects can be life-threatening.

Most girls and women with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.

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Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.

Go To Source: Orphanet


Medical Term Other Names Description
Lymphedema Lymphoedema, Onset of lymphedema around puberty, Lymphatic obstruction [more] Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
Coarctation of aorta Coaractation of the aorta, Coarctation of the aorta, Aortic coarctation [more] Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Absent speech Lack of language development, Lack of speech, Absent speech development, No speech development, Nonverbal, No speech or language development [more] Complete lack of development of speech and language abilities.
Abnormality of cardiovascular system morphology Cardiovascular malformations, Heart defect Any structural anomaly of the heart and great vessels.
Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Premature ovarian insufficiency Menopause praecox, Hypergonadotropic amenorrhea, Premature menopause, Climacterium praecox, Primary ovarian insufficiency, Early menopause, Premature ovarian failure [more] Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
Behavioral abnormality Psychiatric disturbances, Behavioral problems, Behavioral/psychiatric abnormalities, Behavioural/Psychiatric abnormality [more] An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental retardation, Motor and developmental delay, Developmental delay in early childhood, Retarded psychomotor development, Retarded mental development, Delayed cognitive development, Retarded development, Delayed developmental milestones, Delayed development, Psychomotor development failure, Mental and motor retardation, Psychomotor delay, Delayed psychomotor development [more] A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Webbed neck Neck webbing, Pterygium colli Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.

Other Classifiers and IDs

  • OrphaNet: ORPHA:881
  • MedDRA: 10045181
  • MeSH: D014424
  • UMLS: C0242526