Werner syndrome is a genetic disorder that causes premature aging. The syndrome is progressive, meaning it tends to get worse over time. It may be life threatening as a person reaches middle age, but treatment can help.
Werner syndrome (WS) is a rare genetic disorder caused by mutations in the WRN gene. It causes premature aging with conditions like cataracts, skin ulcers, and osteoporosis developing.
While Werner syndrome typically starts when a person is 30 or 40 years old, it can begin as early as adolescence.
WS is an autosomal recessive disorder. This means a person must inherit it from both parents during conception.
Changes to the WRN gene cause WS. The WRN gene is responsible for DNA repair, among other processes in the body.
WS is also known as “adult progeria” because people with WS experience both inward and outward signs of rapid aging.
Other health difficulties are also common, including a higher risk of developing certain cancers, like thyroid cancer, sarcoma, and skin cancer. People with WS may also develop diabetes, fertility issues, and more.
Short stature and three other “cardinal signs” are present in the majority of people with WS. These cardinal signs
- cataracts in both eyes (affects 99% of people with WS)
- premature thinning and graying of hair on the scalp (occurs in 100% of people with WS)
- skin changes (occurs in 96% of people with WS)
Other signs and symptoms may include:
- thin arms and legs
- characteristic “pinched” features
- vocal changes (high pitched voice)
- fertility issues
- type 2 diabetes
- soft tissue calcification
- ulcers on the skin
- certain cancers
WS is a genetically inherited disease. This means it’s caused by changes (mutations) to the WRN gene that happen when the sperm meets the egg.
To be born with the syndrome, a person must inherit one copy of the mutated gene from each parent.
The WRN gene is responsible for things like DNA replication and DNA repair. When the gene is affected, the signs of premature aging and other health issues occur.
It takes two affected genes — one from each parent — to cause WS. This means if two parents are carriers, they have a
If a person inherits just one affected gene, they are considered an asymptomatic carrier. This happens half the time.
There is no standard treatment for WS.
Instead, treatment depends on a person’s symptoms. There is no cure for the syndrome, so treatment aims to address specific health issues as they arise.
Treatment may include:
- surgery to address cataracts
- statin drugs to manage cholesterol levels
- cancer treatments, when appropriate
- diet and medical management of diabetes
- dermatological care of skin issues
- fertility treatments
Doctors also encourage people with WS to avoid smoking and to get regular exercise. Lifestyle strategies to maintain a moderate weight, like staying active and eating a balanced diet, can also help with heart-related issues like high cholesterol.
The health issues associated with WS may shorten a person’s life expectancy.
The mean age of death is between
A doctor can make a diagnosis of WS by observing the cardinal signs (short stature, premature graying hair, skin issues, and cataracts) and any additional symptoms a person may have.
Genetic testing via a blood test can analyze the WRN gene and confirm the diagnosis.
You cannot necessarily prevent WS.
It is a genetic condition a person is born with. If you or your partner are looking to become pregnant and have a family history of WS, a genetic counselor can help you assess your individual risk of passing on the syndrome to your offspring.
How many people are affected by WS?
Experts estimate fewer than 5,000 people live with the syndrome in the United States.
Do people with WS all have similar symptoms?
Not necessarily. Symptoms vary from person to person. While
Where can I get more information and support for WS?
Your doctor may have suggestions for support in your local area. Other places you may find additional information include:
WS is a rare genetic disorder that causes premature aging and other health issues. Symptoms vary person to person but are progressive and may eventually shorten life expectancy. While there is no cure, treatments can help improve a person’s quality of life.
Talk with your doctor if you have concerns about your own health or if you have a family history of WS. Genetic testing can confirm whether you carry the gene mutation and may pass it along during reproduction.