Progeria

Progeria

Definition:

Progeria is a disease that produces rapid aging starting in childhood.

Alternative Names:

Hutchinson-Gilford syndrome

Causes, incidence, and risk factors:

The exact cause of progeria is unknown, although a hereditary component may be involved. Progeria is a rare condition but has come into public awareness because its symptoms strongly resemble normal human aging as well as the appearance of several affected children in movies on national television.

Progeria results in rapid aging of children, beginning with growth failure during the first year of life that results in disproportionately small bodies given the size of their heads. The children are thin with baldness, wizened narrow faces, and old-appearing skin.

Children with progeria develop early atherosclerosis. The average lifespan is the early teens, some patients live up to 30 but lifespan is shortened. The cause of death is usually related to the heart or a stroke as a result of the progressive atherosclerosis.

Symptoms:

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

Signs and tests:

Skin changes similar to that seen in scleroderma (the connective tissue becomes tough and hardened)
Insulin resistant diabetes (diabetes that does not respond readily to insulin injections)
There may be early atherosclerosis of blood vessels leading to abnormal stress tests of the heart

Tests:
There are no specific tests for this condition. The diagnosis is made based on the symptoms and signs found during a physical examination.

Treatment:

There is presently no treatment for progeria. Support groups are available for the families of children with progeria.

Support Groups:

International Progeria Registry
NY State Institute for Basic Research
Staten Island, NY 10314
Phone: 718-494-5333

Progeria Research Foundation, Inc.
PO Box 3453
Peabody, MA 01961-3453
Phone: 978-535-2594
Website: http://www.progeriaresearch.orghttp://www.progeriaresearch.org; E-mail : mailto:progeria@netzero.netprogeria@netzero.net

Expectations (prognosis):

Progeria is associated with a short lifespan.

Complications:

Calling your health care provider:

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

Prevention:

There is no prevention for progeria per se, but prevention of some of the manifestations of the disorder relies on the same medical approaches for these complications in other disorders.

Review Date: 11/12/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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