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Progeria Syndromes

Give appearance of premature aging

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Updated April 30, 2014

Many people know progeria from seeing children who look very old on TV talk shows and documentaries. Those children have the more rare form of progeria; there is another more common type that affects adolescents and adults.

Hutchinson-Gilford progeria
This syndrome occurs in about 1 in 8 million children. At birth, a child with Hutchinson-Gilford progeria appears normal. The syndrome begins to show around 6-12 months of age, when the baby fails to gain weight and skin changes occur. Over time, the child begins to look like an elderly person. Some of the characteristic symptoms are:

  • Head and face: baldness, prominent scalp veins and eyes, small jaw, delayed tooth formation
  • Bones: thin limbs with prominent joints, short stature, joint stiffness, hip dislocations
  • Heart disease and artery disease

About 97% of the children affected are Caucasian, but all children with Hutchinson-Gilford progeria have a similar appearance, regardless of racial/ethnic background. Children with the syndrome survive to an average age of 13 years old, with most succumbing to heart disease.

Werner Syndrome
Werner syndrome is a less well-known but more common form of progeria, occurring in about 1 in 1 million individuals. Typically, Werner syndrome is identified when an adolescent fails to have a normal growth spurt. Over time, the young person begins to look elderly. Some of the characteristic symptoms are:

  • Striking difference between the person's appearance and his/her real age
  • Head and face: gray hair and/or balding, wrinkling of the face, cataracts, sunken cheeks and small jaw, a high-pitched voice
  • Bones: osteoporosis, small stature, muscle weakness
  • Diabetes and cancer common

Werner syndrome appears to occur 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.

Causes
In 1992, researchers pegged Chromosome 8 as being the locus of Werner syndrome; in 2003 the responsible gene was identified. Researchers hope that they will be able to discover what roles this gene plays in the body and thereby figure out the mechanisms behind the syndrome.

The gene responsible for Hutchinson-Gilford syndrome has not been identified, so researchers do not have a grasp yet of what causes the syndrome. They suspect a gene defect (mutation) occurs accidentally in a human embryo, and the child then develops progeria.

May not be premature aging
In both syndromes, research suggests that although the affected person may look like he or she is growing old prematurely, there are a number of conditions that develop that are very different from those of elderly people. For example, people with Werner syndrome develop osteoporosis, as in aging, but their form of the bone disease is unusually severe in the long bones of the legs. Yet researchers are hopeful that both syndromes will give some clues about the genetic factors involved in the aging process.

Information for this article was taken from:
- Kaiser, H W, (2002). Hutchinson-Gilford progeria. eMedicine, accessed at http://www.emedicine.com/derm/topic731.htm
- The Progeria Research Foundation. The progeria syndrome fact sheet.
- 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? Available at http://www.sciam.com
- Wozniacka, A. (2002). Progeria (Werner syndrome). eMedicine, accessed at http://www.emedicine.com/derm/topic697.htm

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