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Progeria
Other Names for this Disease
- HGPS
- Hutchinson Gilford progeria syndrome
- Hutchinson Gilford syndrome
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Overview
Progeria is a rare condition characterized by dramatic, rapid aging beginning in childhood.[1][2] Affected newborns usually appear normal but within a year, their growth rate slows significantly. Affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size. They also often have symptoms typically seen in much older people including joint stiffness, hip dislocations and severe, progressive cardiovascular disease. Intelligence is typically normal. The average lifespan is age 13; death is usually due to heart attack or stroke.[2] Progeria is caused by mutations in the LMNA gene, but almost always results from a new mutation rather than being inherited from a parent.[1] Management focuses on the individual signs and symptoms of the condition. Although there is currently no cure, research involving treatment is ongoing and progress is being made.
References
- Hutchinson-Gilford progeria syndrome . Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=hutchinsongilfordprogeriasyndrome. Accessed March 30, 2010.
- Learning About Progeria. National Human Genome Research Institute (NHGRI). http://www.genome.gov/11007255. Accessed March 30, 2010.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Progeria have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on Progeria. Click on the link to go to GHR and review the information.
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Progeria. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Progeria. Click on the link to go to OMIM and review these resources.
Insurance Issues
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.