What Is Werner Syndrome?

Werner syndrome, also known as adult progeria, is a rare disorder which is inherited when both parents carry a copy of the defective gene. The classic facial features in Werner syndrome include a hooked nose and prominent eye sockets. Other signs of premature aging, including thinning hair, wrinkled and loose skin, diminished eyesight, and poor muscle mass, are also common manifestations.

Werner sets in when the gene that produces the protein Werner (WRN), responsible for repairing damaged DNA and preventing premature aging, has a faulty mutation.1 The main characteristic of the disorder is premature aging and its related complications, including predisposition to cancers, cardiovascular diseases, endocrine disorders, and bone conditions.2

This condition was first described by the German doctor Otto Werner at the University of Kiel. As a medical student, Werner found unusual cataracts in people

from the same family (typically in their 20s) and went on to describe the condition.3 Werner syndrome typically affects 1 in 200,000 individuals in the United States. It is more frequent in Japan, where it affects 1 in 20,000.4

What Are The Symptoms?

Werner syndrome is typically detected in the 20s and 30s though some symptoms may present in adolescence. In fact, the condition is often first noticed when the usual teenage growth spurt is found missing. Generally, people with Werner show slow growth and mostly stop growing in their adolescence. As a result, they are of short stature and low weight.5 By the age of 25, most affected individuals have graying hair and wrinkled skin and experience hair loss. The other symptoms which affect the person’s health include:

  • Wasting of tissue in the body, leading to loose skin and weight loss
  • Early onset
    of cataracts in the eyes
  • Endocrine issues and even early menopause in both women and men. Women usually experience early onset osteoporosis after menopause
  • Early onset diabetes
  • Cardiac issues like thickening of arteries and blood clots

While lifespans cannot be accurately predicted in Werner, affected individuals have a high morbidity rate due to various complications.

How Is Werner Syndrome Diagnosed?

In families where the presence of the gene is confirmed, because of previous births of children with Werner, prenatal testing such as amniocentesis can help to check such cases.

For individuals presenting with one or more of the above symptoms, a clinical correlation is conducted to confirm the presence of Werner syndrome. The doctor will take a thorough history, physical, and family medical history. Both the patient and the parents may be asked to get a gene mapping done to check for a mutation in the WRN gene. Werner syndrome is also diagnosed through facial parameters such as a hooked/beaked nose, prominent eyes, a protruding forehead, and loss of fatty tissue (making the person look thin and weak).6


At present, there is no cure for Werner syndrome. Treatment is mostly preventive and aimed at symptom management. A person with Werner usually needs care from a multidisciplinary team of specialists including endocrinologists, cardiologists, orthopedists, ophthalmologists, and skin specialists.

Diabetes and other endocrine complications are managed with oral medications, insulin, and hormone replacement therapy. People with osteoporosis may be put on medication like bisphosphonates (to help with calcium absorption) and nutritional supplements such as calcium and vitamin D3. To prevent cardiac complications like thickening of arteries, medications to thin the blood are used. Werner patients are also checked from time to time to rule out the occurrence of cancers associated with this disorder.7

Gene therapy to insert a correct copy of the normal WRN gene is still under study. Till it reaches us, Werner syndrome has to be treated with available medication and therapeutics.