The characteristic aged appearance of individuals with Werner syndrome typically begins to develop when they are in their twenties and includes graying and loss of hair; a hoarse voice; and thin, hardened skin.
, also known as progeria, is a condition that causes premature ageing and puts the person at an increased risk of cancer and other diseases. It is a hereditary disease and the signs usually occur during the teenage years. The affected person does not have the usual growth that a typical teenager should have; they are shorter on average.
Being a genetic condition, Werner syndrome can passed from generation to generation in a family. The condition occurs when there is a change in the WRN gene. Not much is known about Werner syndrome and research is going on to dig out more information.
Symptoms of Werner Syndrome
As the disease progresses, affected individuals may develop disorders of ageing in early life such as:
- Cataracts in both eyes (bilateral)
- Skin changes associated with aging, including tight skin, pigments changes, and skin ulcers
- Characteristic facial features, including wrinkling and loss of muscle tone, described as “bird like” due to loss of fat in underlying skin.
- Short stature (height)
- Early greying or thinning of the hair
- Family history of Werner syndrome
Other features seen in Werner syndrome:
- Type 2 diabetes
- Decreased fertility
- Bone changes in the fingers and toes
- Tissue changes
- Early atherosclerosis (plaque build up in arteries)
- Hoarse or high-pitched voice
- Flat feet
International Registry of Werner Syndrome has proposed guidelines for the diagnosis of this disease. The process involves clinical and radiologic findings. Due to technological advancements, the doctors can now even track the mutations in the WRN gene.
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