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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.
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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.
- Gene Review: Hutchinson-Gilford Progeria Syndrome
- Gene Tests:
Progeroid Laminopathies
You might also find information on the diagnosis or management of
Hutchinson-Gilford progeria syndrome in
Educational resources and
Patient
support.
- To locate a healthcare provider, see
How can I find a genetics professional
in my area? in the Handbook.
Where can I find additional information about Hutchinson-Gilford progeria syndrome?
-
Gene
Tests: DNA
tests ordered by healthcare professionals - ClinicalTrials.gov: Linking patients to medical research
- OMIM: Genetic
disorder catalog
What other names do people use for Hutchinson-Gilford progeria syndrome?
- HGPS
- Hutchinson-Gilford Syndrome
- Progeria
- Progeria of childhood