Werner syndrome, also known as adult progeria, is a rare, hereditary disorder that causes someone to age rapidly.

While progeria presents in children, people with the specific type known as Werner syndrome may not know they have it until their teens or adulthood. It’s at this time that they begin to develop features associated with much older adults, such as gray hair, thinning skin, wrinkles, and so on.

In addition, those with Werner syndrome may have skinny limbs, short stature, prominent eyes, and a pronounced nose, amongst other physical differences. The disorder can also cause the early development of age-related health issues, such as cataracts and osteoporosis.

Read on to learn more about why Werner syndrome occurs, the symptoms it causes, how it’s diagnosed and managed, and how it may impact life expectancy.

Signs of Werner Syndrome

A person with Werner syndrome will exhibit signs of premature aging such as:

  • Thinning skin
  • Loss of skin firmness; wrinkles
  • Fat loss in the upper layers of the skin
  • Hair loss all over the body
  • Hair greying
  • Distortion and discoloration of the nails
  • Skin pigmentation issues

They may have some particular facial differences, including:

  • A small jawA “pinched” or so-called “bird-like” face (prominent eyes and nose)A sunken appearance

And they may also have other physical differences, such as:

  • Short heightLow weight compared to their heightLack of strengthA thick trunk and thin limbsShorter/thinner vocal cords that result in a high-pitched voice

The signs of Werner syndrome usually appear during a person’s 30s or 40s, but they can start earlier on. They progress over time.

Complications

Werner syndrome can lead to a variety of health concerns that must be monitored for and managed throughout one’s life. These include:

  • Skin ulcersDental issuesEye issues (such as cataracts)Endocrine disordersOsteoporosis (weak and brittle bones)Hardening of the arteriesDiabetesFertility issues

People with Werner syndrome are at higher risk for potentially fatal conditions like cancer and cardiovascular disease.Cancers common in people with Werner syndrome include:

  • Thyroid cancer
  • Melanoma
  • Brain and spinal tumors
  • Bone cancer
  • Soft tissue sarcomas
  • Leukemia

Cause of Werner Syndrome

Werner syndrome is an inherited condition, meaning a person is born with it. It is tied to a mutation of the WRN gene, which is located on the 8th chromosome.

The WRN gene controls the production of what’s known as the Werner protein. This protein is thought to have a role in DNA repair and maintenance. Experts believe mutation of the WRN gene causes Werner syndrome symptoms, but they are unsure of exactly how.

A person must inherit the mutated WRN gene from both parents for Werner syndrome to occur.If both parents carry the mutated gene, it does not mean all of their children will be born with the disease. One in four children will usually have the disorder.

When and How It’s Diagnosed

Werner syndrome is usually diagnosed in a person’s 30s or 40s, but it can be identified as early as age 15.

How Many People Have Werner Syndrome?

Werner syndrome affects approximately one in 1 million people. The condition is more common in Japan than in other parts of the world. The condition affects assigned males and females equally.

It may be suspected if someone presents with signs of premature aging, though it may also be considered if there is:

  • No growth spurt at pubertyA lack of pubic hairA lack of breast development or menstruationAn abnormally small penis and testes

A healthcare provider will review family and symptom history, as well as perform a thorough physical exam first.

Imaging studies and lab tests may then be done to gather information that can help form a diagnosis of Werner syndrome, but the only way to confirm one is to perform molecular gene testing that looks for a mutation in the WRN gene.

Genetic testing is something that may be ordered once someone is exhibiting signs of Werner syndrome, or parents with Werner syndrome may opt to seek out testing for their children earlier on, knowing their risk.

Syndromes With Similar Signs

Werner syndrome is one of two main types of progeria—the other being Hutchinson-Gilford progeria syndrome (HGPS). Hutchinson-Gilford is usually diagnosed earlier in life, typically around age 2, so it may or may not be considered when working to reach a diagnosis.

Testing During IVF

Preimplantation genetic diagnosis (PGD) involves testing eggs for a genetic mutation before implantation. While this is an option for people with Werner syndrome who are undergoing in vitro fertilization (IVF), the cost can be a barrier.

There are several other syndromes that have signs similar to Werner syndrome as well. You may encounter these names as you research possible causes of the signs you are noticing.

Know that some of these may be considered or immediately ruled out depending on when signs first began to appear:

  • De Barsy syndromeGottron’s syndromeStorm syndromeMulvihill-Smith syndromeRothmund-Thomson syndrome

Werner Syndrome Treatment

There is no cure for Werner syndrome. Care focuses on managing symptoms and monitoring for/treating complications.

This involves a team of specialists that, together, can help address the body-wide effects of Werner syndrome.

For example:

  • An endocrinologist may treat someone with Werner syndrome for related type II diabetes. Cases are usually mild and is easy to treat with medication.
  • An ophthalmologist may care for someone with Werner syndrome who has developed cataracts, which may require corrective lenses or surgery.
  • An oncologist may be needed if a person with Werner syndrome goes on to develop a related cancer.
  • A genetic counselor may work with a person with Werner syndrome who wants to conceive.

Life Expectancy With Werner Syndrome

The life expectancy for people with Werner syndrome is not well understood. A small 2022 study found that people with Werner syndrome may live to be 59 years old, on average.

Complications of Werner syndrome are the concern, and these often show up in a person’s 40s and 50s.

Summary

Werner syndrome is a rare genetic condition that causes a person’s body to age faster than normal. It is distinct from Hunchinson-Gilford progeria, another premature aging syndrome, in that it typically occurs in adolescence or adulthood rather than early childhood.

Werner syndrome causes noticeable physical differences and changes, such as early gray hair and wrinkles, short height, and a “pinched” facial appearance. It can also cause complications, some of which can be life-threatening.

There is no specific treatment for Werner’s syndrome, but a team of specialists can help people manage the condition and avoid health complications.

A Word From Verywell

If you or a loved one has been diagnosed with Werner syndrome, know that while there are still many unknowns about the condition, it can be managed.

A team of medical specialists who are familiar with the syndrome can help you cope with its effects, manage the risk of complications, and navigate decisions that you might be considering, such as wanting to have children.

Frequently Asked Questions

  • How common is premature aging disease?
  • That depends on which type. Werner syndrome affects about one in 1 million people worldwide, while Hutchinson-Gilford syndrome affects approximately one in 8 million children worldwide.
  • Is Werner syndrome the same as Benjamin Button disease?
  • They are both progerias, or early aging syndromes, and their signs are similar. But they differ in terms of when those signs appear. Werner syndrome becomes apparent in one’s teens and twenties, while Benjamin Button disease (or Hutchinson-Gilford progeria) is usually noticed at about nine to 24 months of age.
  • What is the link between Werner syndrome and cancer?
  • People with Werner syndrome are likely to develop cancer as a complication of the disease, likely because of the rapid aging of their cells. Many cancers tend to develop later in life, but for people with premature aging diseases like Werner syndrome, cancers may appear earlier.
  • Learn More:
  • Cell Aging and Cancer

That depends on which type. Werner syndrome affects about one in 1 million people worldwide, while Hutchinson-Gilford syndrome affects approximately one in 8 million children worldwide.

They are both progerias, or early aging syndromes, and their signs are similar. But they differ in terms of when those signs appear. Werner syndrome becomes apparent in one’s teens and twenties, while Benjamin Button disease (or Hutchinson-Gilford progeria) is usually noticed at about nine to 24 months of age.

People with Werner syndrome are likely to develop cancer as a complication of the disease, likely because of the rapid aging of their cells. Many cancers tend to develop later in life, but for people with premature aging diseases like Werner syndrome, cancers may appear earlier.