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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Turner syndrome


Other Names for this Disease

  • 45, X Syndrome
  • Bonnevie-Ulrich syndrome
  • Chromosome X Monosomy X
  • Gonadal Dysgenesis (45,X)
  • Schereshevkii Turner Syndrome
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Symptoms

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What are the signs and symptoms of Turner syndrome?

There are various signs and symptoms of Turner syndrome, and they can range from very mild to more severe among individuals with the condition. Girls who have Turner syndrome are typically shorter than average. They often have normal height for the first three years of life, but then have a slow growth rate. In early childhood, individuals may have frequent middle ear infections, which can lead to hearing loss in some cases. At puberty, they do not have the usual growth spurt, and the ovaries do not function properly (they do not begin to produce sex hormones). Therefore, most girls with Turner syndrome do not start their periods or develop breasts without hormone treatment. Although most individuals with Turner syndrome are infertile, the vagina and uterus are usually normal. Individuals with Turner Syndrome usually have normal intelligence with good verbal skills and reading skills. Some girls, however, have problems with math, memory skills and fine-finger movements.

Additional symptoms of Turner syndrome may include a very wide neck (webbed neck) and a low or indistinct hairline; broad chest and widely spaced nipples; arms that turn out slightly at the elbow; heart murmur, sometimes associated with narrowing of the aorta (blood vessel exiting the heart); tendency to develop high blood pressure; and minor eye problems that may be corrected by glasses. Scoliosis (curving of the spine) occurs in 10 percent of adolescent girls who have Turner syndrome. Additionally, the thyroid gland becomes under-active in about 10 percent of women with the condition. Older or over-weight women with Turner syndrome are slightly more at risk of developing diabetes. Osteoporosis can develop due to a lack of estrogen, but this can usually be prevented by taking hormone replacement therapy.[1]
Last updated: 12/15/2010

The Human Phenotype Ontology provides the following list of signs and symptoms for Turner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the aorta 90%
Aplasia/Hypoplasia of the nipples 90%
Cubitus valgus 90%
Enlarged thorax 90%
Low posterior hairline 90%
Polycystic ovaries 90%
Short stature 90%
Abnormal dermatoglyphics 50%
Abnormal localization of kidney 50%
Abnormality of the fingernails 50%
Abnormality of the metacarpal bones 50%
Hypoplastic toenails 50%
Melanocytic nevus 50%
Secondary amenorrhea 50%
Webbed neck 50%
Atypical scarring of skin 7.5%
Cognitive impairment 7.5%
Cystic hygroma 7.5%
Defect in the atrial septum 7.5%
Delayed skeletal maturation 7.5%
Lymphedema 7.5%
Ptosis 7.5%
Reduced bone mineral density 7.5%

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Learning About Turner Syndrome. National Human Genome Research Institute. June 28, 2010; http://www.genome.gov/19519119. Accessed 12/14/2010.


Other Names for this Disease
  • 45, X Syndrome
  • Bonnevie-Ulrich syndrome
  • Chromosome X Monosomy X
  • Gonadal Dysgenesis (45,X)
  • Schereshevkii Turner Syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.