What is Turner Syndrome?
What is Turner Syndrome?
- Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
- Turner Syndrome: A syndrome in which the affected patients have only 45 chromosomes, the loss of one of the X chromosomes producing an XO chromosome constitution. The syndrome occurs in 1/2500 female births and nearly 99% of XO fetuses are aborted. Gonadal agenesis and short stature are the main features in the surviving infants. Associated anomalies may included webbed neck, cubitus valgus, shield chest, short stature, lymphedema, coarctation of the aorta, pigmented nevi, and various renal, skeletal, dermatologic, neoplastic, and autoimmune complications. Mental retardation is attributed to ring chromosome X. The phenotype varies and not all abnormalities occur in all patients.
Source - Diseases Database
Turner Syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Turner Syndrome, or a subtype of Turner Syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Turner Syndrome as a "rare disease".
Source - Orphanet
Turner Syndrome: Introduction
Types of Turner Syndrome:
Broader types of Turner Syndrome:
How many people get Turner Syndrome?
Prevalance of Turner Syndrome: 1 per 2,500 live female births are affected by Turner syndrome, Genetics Home Reference website
Prevalance Rate of Turner Syndrome: approx 1 in 2,500 or 0.04% or 108,800 people in USA [about data]
How serious is Turner Syndrome?
Complications of Turner Syndrome:
see complications of Turner Syndrome
What causes Turner Syndrome?
Causes of Turner Syndrome: see causes of Turner Syndrome
Cause of Turner Syndrome: XO chromosome pattern - one X but no second X or Y chromosome. Normally women are XX and men are XY.
What are the symptoms of Turner Syndrome?
Symptoms of Turner Syndrome:
see symptoms of Turner Syndrome
Complications of Turner Syndrome:
see complications of Turner Syndrome
Can anyone else get Turner Syndrome?
Inheritance of genetic conditions: see details in inheritance of genetic diseases.
Turner Syndrome: Testing
Diagnostic testing: see tests for Turner Syndrome.
Misdiagnosis: see misdiagnosis and Turner Syndrome.
How is it treated?
Treatments for Turner Syndrome:
see treatments for Turner Syndrome
Research for Turner Syndrome:
see research for Turner Syndrome
Society issues for Turner Syndrome
Hospitalization statistics for Turner Syndrome:
The following are statistics from various sources about hospitalizations and Turner Syndrome:
- 0.001% (102) of hospital consultant episodes were for Turner’s syndrome in England 2002-03 (Hospital Episode Statistics, Department of Health, England, 2002-03)
- 96% of hospital consultant episodes for Turner’s syndrome required hospital admission in England 2002-03 (Hospital Episode Statistics, Department of Health, England, 2002-03)
- 4% of hospital consultant episodes for Turner’s syndrome were for men in England 2002-03 (Hospital Episode Statistics, Department of Health, England, 2002-03)
- 96% of hospital consultant episodes for Turner’s syndrome were for women in England 2002-03 (Hospital Episode Statistics, Department of Health, England, 2002-03)
- more statistics...»
Organs Affected by Turner Syndrome:
Organs and body systems related to Turner Syndrome include:
Name and Aliases of Turner Syndrome
Main name of condition: Turner Syndrome
Class of Condition for Turner Syndrome: genetic sex chromosomal
Other names or spellings for Turner Syndrome:
XO syndrome, monosomy X, Bonnevie-Ulrich syndrome, TS, Ulrich-Turner syndrome, 45,X, Ovarian dwarfism as part of Turner Syndrome, Ullrich-Turner syndrome, Bonnevie-Ullrich Syndrome, Ovarian dwarfism
Bonnevie-Ullrich syndrome, Pterygolymphangiectasia syndrome, XO syndrome
Source - Diseases Database
TS (Turner syndrome), Ullrich-Turner syndrome, Ullrich-Turner syndrome, TS (Turner syndrome)
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)
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Online Medical Textbooks for Turner Syndrome
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