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Genetic

Progeria

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Definition

Progeria is a rare genetic condition that produces rapid aging in children.

Alternative Names

Hutchinson-Gilford progeria syndrome; HGPS

Causes, incidence, and risk factors

Progeria is a rare condition that is remarkable because its symptoms strongly resemble normal human aging, but occur in young children. It usually is not passed down through families. Rarely is it seen in more than one child in a family.

Symptoms

  • Growth failure during the first year of life
  • Narrow, shrunken or wrinkled face
  • Baldness
  • Loss of eyebrows and eyelashes
  • Short stature
  • Large head for size of face (macrocephaly)
  • Open soft spot (fontanelle)
  • Small jaw (micrognathia)
  • Dry, scaly, thin skin
  • Limited range of motion
  • Teeth - delayed or absent formation

Signs and tests

The health care provider will perform a physical exam and order laboratory tests. This may show:

  • Insulin resistance
  • Skin changes similar to that seen in scleroderma (the connective tissue becomes tough and hardened)

Cardiac stress testing may reveal signs of early atherosclerosis of blood vessels.

Genetic testing can detect changes in the gene that causes progeria.

Treatment

There is no specific treatment for progeria.

Support Groups

Progeria Research Foundation, Inc. -- www.progeriaresearch.org

Expectations (prognosis)

Progeria causes early death. Patients usually only live to their teenage years. However, some patients can live into their early 20s. The cause of death is usually related to the heart or a stroke.

Complications

  • Heart attack (myocardial infarction)
  • Stroke

Calling your health care provider

Call for an appointment with your health care provider if your child does not appear to be growing or developing normally.

References

Brown WT. Progeria. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 90.

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