Progeria

Definition

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

Alternative Names

Hutchinson-Gilford progeria syndrome; HGPS

Causes

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

Exams 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

Outlook (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.

Possible Complications

Heart attack (myocardial infarction)
Stroke

When to Contact a Medical Professional

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.

Review Date: 8/4/2011
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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