- 45, X Syndrome
- 45,X syndrome
- 45,X/46,XX syndrome
- Bonnevie-Ulrich syndrome
- Chromosome X Monosomy X
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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.
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.
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.
- Learning About Turner Syndrome. National Human Genome Research Institute. June 28, 2010; http://www.genome.gov/19519119. Accessed 12/14/2010.