Hutchinson-Gilford progeria syndrome facts*

*Hutchinson-Gilford progeria syndrome facts medical author: Charles Patrick Davis, MD, PhD

  • Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic and rapid appearance of aging; symptoms begin in early childhood.
  • Signs and symptoms may include facial changes such as thin, beaked-tipped nose, a small chin, thin lips, protruding ears and prominent eyes; other non-facial features may include joint abnormalities, loss of fat under the skin, hair loss, and aged-looking skin but the child's intellect and motor skills are usually not altered.
  • Progeria syndrome is very rare; only about 130 individuals have been diagnosed since 1886.
  • Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome due to production of an abnormal lamin A protein.
  • People inherit the disease; only one copy of the LMNA gene is enough to cause the disease because it is an autosomal dominant gene.
  • Complications of progeria syndrome include severe hardening of the arteries beginning in childhood that markedly increase the chance of a heart attack or stroke at an early age (average life-span is about 13 years).
  • Hutchinson-Gilford progeria syndrome has several names in the literature (progeria, progeria of childhood, HGPS, and progeria syndrome); parents and others are urged to consult with a specialist in genetic diseases for additional information about diagnosis and treatments.

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.

How common is Hutchinson-Gilford progeria syndrome?

This condition is very rare; it is reported to occur in 1 in 4 million newborns worldwide. More than 130 cases have been reported in the scientific literature since the condition was first described in 1886.

What genes are related to Hutchinson-Gilford progeria syndrome?

Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome.

The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.

How do people inherit Hutchinson-Gilford progeria syndrome?

Hutchinson-Gilford progeria syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family.

What are the complications and prognosis of people with Hutchinson-Gilford progeria syndrome?

Experience severe hardening of the arteries (arteriosclerosis) beginning in childhood. This condition greatly increases the chances having a stroke at a young age. These serious complications can worsen over time and are life-threatening for affected individuals.

Where can I find information about diagnosis, management, or treatment of Hutchinson-Gilford progeria syndrome?

These resources address the diagnosis or management of Hutchinson-Gilford progeria syndrome and may include treatment providers.

You might also find information on the diagnosis or management of Hutchinson-Gilford progeria syndrome in Educational resources and Patient support.

Where can I find additional information about Hutchinson-Gilford progeria syndrome?

What other names do people use for Hutchinson-Gilford progeria syndrome?

  • HGPS
  • Hutchinson-Gilford Syndrome
  • Progeria
  • Progeria of childhood

SOURCE: Genetics Home Reference. Hutchinson-Gilford progeria syndrome.

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Reviewed on 7/31/2007
References
SOURCE: Genetics Home Reference. Hutchinson-Gilford progeria syndrome.

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