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Progeria - Symptom

Alternative Names

Hutchinson-Gilford progeria syndrome; HGPS

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

Signs 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.

Coronary artery blockage

Reviewed last on: 8/4/2011
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.

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.

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