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Diseases

Genetic and Rare Diseases Information Center (GARD)

Turner syndrome


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

Symptoms

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What are the signs and symptoms of Turner syndrome?

There are various signs and symptoms of Turner syndrome, which can range from very mild to more severe. Short stature is the most common feature and usually becomes apparent by age 5. In early childhood, frequent middle ear infections are common and can lead to hearing loss in some cases. Most affected girls do not produce the necessary sex hormones for puberty, so they don't have a pubertal growth spurt, start their periods or develop breasts without hormone treatment. While most affected women are infertile, pregnancy is possible with egg donation and assisted reproductive technology. Intelligence is usually normal, but developmental delay, learning disabilities, and/or behavioral problems are sometimes present.

Additional symptoms of Turner syndrome may include:
  • a wide, webbed neck
  • a low or indistinct hairline in the back of the head
  • swelling (lymphedema) of the hands and feet
  • broad chest and widely spaced nipples
  • arms that turn out slightly at the elbow
  • congenital heart defects or heart murmur
  • scoliosis (curving of the spine) or other skeletal abnormalities
  • kidney problems
  • an underactive thyroid gland
  • a slightly increased risk to develop diabetes, especially if older or overweight
  • osteoporosis due to a lack of estrogen, (usually prevented by hormone replacement therapy).[1][2]
Last updated: 1/11/2016

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%
Atria septal defect 7.5%
Atypical scarring of skin 7.5%
Cognitive impairment 7.5%
Cystic hygroma 7.5%
Delayed skeletal maturation 7.5%
Lymphedema 7.5%
Ptosis 7.5%
Reduced bone mineral density 7.5%

Last updated: 2/1/2016

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. NHGRI. September 24, 2013; http://www.genome.gov/19519119.
  2. Turner syndrome. Genetics Home Reference. January, 2012; http://ghr.nlm.nih.gov/condition/turner-syndrome.


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