What Is Progeria?

Two Conditions That Cause Rapid Aging

It's not uncommon to look a few years younger or older than you actually are. But, imagine looking decades older than your age. For people with progeria, a genetic condition that causing rapid aging, it's not uncommon to look 30 or more years older than they actually are.

While progeria is typically associated with Hutchinson-Gilford progeria, the term may also refer to Werner syndrome, also known as adult progeria.

Girl with progeria condition playing with puzzle
Ilknur Hicret / Getty Images

Hutchinson-Gilford Progeria

Hutchinson-Gilford progeria is incredibly rare, affecting around 1 in 4 to 8 million children. Children with progeria have a normal appearance when they are born. Symptoms of the condition begin to show anytime before two years of age when the baby fails to gain weight and skin changes occur. Over time, the child begins to resemble an elderly person. This may include:

  • Hair loss and baldness
  • Prominent veins
  • Protruding eyes
  • A small jaw 
  • Delayed tooth formation
  • A hooked nose
  • Thin limbs with prominent joints
  • Short stature
  • Loss of body fat
  • Low bone density (osteoporosis)
  • Joint stiffness
  • Hip dislocations
  • Heart disease and atherosclerosis 

About 97% of children with progeria are Caucasian. However, affected children look incredibly similar despite their different ethnic backgrounds. Most children with progeria live to be about 14 years old and die from heart disease.

Werner Syndrome (Adult Progeria)

Werner syndrome occurs in about 1 in 20 million individuals. Signs of Werner syndrome, like short stature or underdeveloped sexual characteristics, may present during childhood or adolescence. However, symptoms typically become more noticeable once a person hits their mid-30s.

Symptoms may include:

  • Wrinkling and sagging of the face
  • Decreased muscle mass
  • Thin skin and loss of fat under the skin
  • Graying hair and hair loss
  • A high-pitched voice
  • Dental abnormalities 
  • Slowed reflexes

Werner syndrome occurs more often in people of Japanese and Sardinian heritage. People with Werner syndrome survive to an average age of 46 years old, with most succumbing to heart disease or cancer.

Progeria Research

Werner syndrome is caused by mutations in the WRN gene on chromosome 8. Progeria caused by a mutation in the LMNA gene on chromosome 1. The LMNA gene produces Lamin A protein, which holds the nucleus of our cells together. Researchers believe that these unstable cells are responsible for the rapid aging associated with progeria.

Researchers hope that by studying these genes they can develop treatments for both conditions that prevent it from being fatal.

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  • Scientific American.com. (1999). What do we know about the cause of Werner syndrome and progeria, the disease that leads to premature aging in children?
  • The Progeria Research Foundation.
  • Wozniacka, A. (2002). Progeria (Werner syndrome). eMedicine