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Hutchinson-Gilford Progeria Syndrome

Progeria

Progeria: A rare genetic disorder that causes children to age prematurely. The classic type of childhood progeria is Hutchinson-Gilford syndrome, which is commonly referred to as progeria. It is characterized by dwarfism, baldness, pinched nose, small face and small jaw relative to the head size, delayed tooth formation, aged-looking skin, diminution of fat beneath the skin, stiff joints, and premature arteriosclerosis. Children with the progeria syndrome usually appear normal at birth. However, within a year, their growth rate slows and their appearance begins to change and age prematurely. They often suffer from symptoms typically seen in elderly people, especially severe cardiovascular disease. Death occurs on average at age 13, usually from heart attack or stroke.

What is Hutchinson-Gilford progeria syndrome?

Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive).

What are the characteristics, signs, and symptoms of Hutchinson-Gilford progeria syndrome?

They develop a characteristic facial appearance including:

  • prominent eyes,
  • a thin nose with a beaked tip,
  • thin lips, a small chin, and
  • protruding ears.

Hutchinson-Gilford progeria syndrome also causes:

  • hair loss (alopecia),
  • aged-looking skin,
  • joint abnormalities, and
  • a loss of fat under the skin (subcutaneous fat).

This condition does not disrupt intellectual development or the development of motor skills such as sitting, standing, and walking.