Progeria

Progeria is a rare condition. It is remarkable because its symptoms strongly resemble normal human aging, but it occurs in young children. In most cases, it is not passed down through families. It is rarely seen in more than one child in a family.

Symptoms include:

• 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 of the skull (fontanelle)
• Small jaw (micrognathia)
• Dry, scaly, thin skin
• Limited range of motion
• Teeth - delayed or absent formation

Your 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)
• Generally normal cholesterol and triglyceride levels

Cardiac stress testing may reveal signs of early atherosclerosis of blood vessels.

Genetic testing can detect changes in the gene (LMNA) that causes progeria.

There is no specific treatment for progeria. Aspirin and statin medicines may be used to protect against a heart attack or stroke.

More information and support for people with Progeria and their families can be found at:

• Progeria Research Foundation, Inc. -- www.progeriaresearch.org

Progeria causes early death. People with the condition most often only live to their teenage years (average lifespan of 14 years). However, some can live into their early 20s. The cause of death is very often related to the heart or a stroke.

Complications may include:

• Heart attack (myocardial infarction)
• Stroke

Contact your provider if your child does not appear to be growing or developing normally.

Hutchinson-Gilford progeria syndrome; HGPS

Gordon LB. Hutchinson-Gilford progeria syndrome (progeria). In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 109.

Jones KL, Jones MC, del Campo M. Senile-like appearance. In: Jones KL, Jones MC, del Campo M, eds. Smith's Recognizable Patterns of Human Malformation. 8th ed. Philadelphia, PA: Elsevier; 2022:174-197.

National Center for Advancing Translational Sciences. Genetic and Rare Diseases Information Center website. Hutchinson-Gilford progeria syndrome. rarediseases.info.nih.gov/diseases/7467/hutchinson-gilford-progeria-syndrome. Updated February 2023. Accessed October 17, 2023.

Updated by: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.