Alternative Names
Adult premature aging syndrome; Adult Progeria; Werner's Syndrome; Werners Syndrome; WS
Symptoms & Characteristics
Werner syndrome is genetic condition characterized by dramatic and rapid aging and an increased risk to develop cancer. The age of onset of Werner syndrome is variable, but an early sign is the lack of a teenage growth spurt, which results in short stature. Many features and symptoms appear between 20 and 30 years old and can include:
- clouding in the lenses of both eyes (called bilateral cataracts)
- characteristic body (thin arms and legs with thick abdominal area)
- characteristic facial features (described as "bird-like" looking)
As the condition progresses, additional features and symptoms appear and can include:
People with Werner syndrome usually live into their late 40's or early 50's.
Treatment
There is no cure for Werner syndrome. Early diagnosis, routine surveillance and treatment may help to manage some of the symptoms and sometimes prevent related problems.
How Common Is It?
About 1 in 200,000 people worldwide are affected with Werner syndrome.
- In Japan, Werner syndrome is more common and affects 1 in 20,000 to 1 in 40,000 people.
Genetics & Inheritance
Approximately 90% of people with Werner syndrome have mutations in a gene called WRN on chromosome 8 at the location p12-11.2. The cause of Werner syndrome in the remaining 10% of affected people is unknown.
We all have two copies of the WRN gene - one from each parent. In Werner syndrome, it is necessary to have two mutations, one in each gene copy, to be affected. This is called autosomal recessive inheritance.
- Both parents of an affected person are always obligate carriers (each have only one mutation). Two carriers have a 25% chance with each pregnancy to have an affected child, but typically do not have symptoms themselves.
There are other genetic conditions that have characteristics that overlap with Werner syndrome. Two of these conditions include Hutchinson-Gilford Progeria syndrome (HGPS) and Atypical Werner syndrome. A genetic consultation with a trained genetic professional is important for a complete evaluation, accurate diagnosis, as well as discussion of the benefits and limitations of testing and recurrence risk.
Genetic Testing
Clinical genetic testing for Werner syndrome is currently available on a research basis only. Use our find a genetic professional directory to locate a trained genetic professional in your area.
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