Progeria

Title

Other Names:

Hutchinson Gilford progeria syndrome; Hutchinson Gilford syndrome; HGPS

Categories:

Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases; Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases; Skin Diseases See More

Summary Summary

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.^[2] The average lifespan is age 13-14; death is usually due to heart attack or stroke.^[2]^[3] 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.

Last updated: 10/28/2015

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal trabecular bone morphology		0100671
Absence of pubertal development		0008197
Alopecia	Hair loss	0001596
Aplastic clavicle	Absent collarbone	0006660
Bilateral coxa valga		0010665
Bird-like facies	Bird-like facial appearance	0000320
Craniofacial disproportion		0005461
Decreased serum estradiol		0008214
Decreased serum testosterone level	Decreased serum testosterone levels Low serum testosterone level Low serum testosterone levels [ more ]	0040171
Delayed eruption of teeth	Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ]	0000684
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
High pitched voice		0001620
Hyperinsulinemia		0000842
Hypogonadotropic hypogonadism		0000044
Hypoplastic facial bones	Decreased size of facial bones Decreased size of facial skeleton [ more ]	0002692
Infertility		0000789
Joint stiffness	Stiff joint Stiff joints [ more ]	0001387
Lipoatrophy	Loss of fat tissue in localized area	0100578
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Multiple joint contractures		0002828
Narrow mouth	Small mouth	0000160
Nasal speech	Nasal voice	0001611
Osteoporosis		0000939
Prominent forehead	Pronounced forehead Protruding forehead [ more ]	0011220
Prominent scalp veins		0001043
Proptosis	Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ]	0000520
Sensorineural hearing impairment		0000407
Short clavicles	Short collarbone	0000894
Short stature	Decreased body height Small stature [ more ]	0004322
Sparse hair		0008070
Thin bony cortex		0002753
Thrombocytosis	Increased number of platelets in blood	0001894
30%-79% of people have these symptoms
Absent eyelashes	Failure of development of eyelashes	0000561
Aminoaciduria	High urine amino acid levels Increased levels of animo acids in urine [ more ]	0003355
Angina pectoris		0001681
Aplasia/Hypoplasia of the earlobes	Absent/small ear lobes Absent/underdeveloped ear lobes [ more ]	0009906
Arteriosclerosis of small cerebral arteries		0004931
Broad-based gait	Wide based walk	0002136
Cyanosis	Blue discoloration of the skin	0000961
Hepatic steatosis	Fatty infiltration of liver Fatty liver [ more ]	0001397
Hypermetropia	Farsightedness Long-sightedness [ more ]	0000540
Hyperphosphatemia	High blood phosphate levels	0002905
Hypertension		0000822
Hypodontia	Failure of development of between one and six teeth	0000668
Hypohidrosis	Decreased ability to sweat Decreased sweating Sweating, decreased [ more ]	0000966
Hypoplastic nipples	Small nipples	0002557
Intermittent claudication		0004417
Keratoconjunctivitis sicca	Dry eyes	0001097
Kyphosis	Hunched back Round back [ more ]	0002808
Lack of skin elasticity		0100679
Macrotia	Large ears	0000400
Metaphyseal widening	Broad wide portion of long bone	0003016
Nail dysplasia	Atypical nail growth	0002164
Narrow nasal tip	Narrow tip of nose Nasal tip, narrow Nasal tip, pinched Pinched nasal tip Pinched tip of nose Thin nasal tip Thin tip of nose [ more ]	0011832
Osteoarthritis	Degenerative joint disease	0002758
Ovoid vertebral bodies		0003300
Premature coronary artery atherosclerosis	Premature coronary artery disease	0005181
Premature graying of hair	Early graying Premature graying Premature greying Premature hair graying [ more ]	0002216
Prolonged prothrombin time		0008151
Reticulated skin pigmentation		0007427
Sparse and thin eyebrow	Thin, sparse eyebrows	0000535
Tapering pointed ends of distal finger phalanges		0006224
Thin nail	Thin nails	0001816
Thin ribs	Slender ribs	0000883
Thin skin		0000963
Thin vermilion border	Decreased volume of lip Thin lips [ more ]	0000233
Widely patent fontanelles and sutures		0004492
5%-29% of people have these symptoms
Acanthosis nigricans	Darkened and thickened skin	0000956
Carotid artery stenosis	Narrowing of carotid artery	0100546
Dental crowding	Crowded teeth Dental overcrowding Overcrowding of teeth [ more ]	0000678
Hip dislocation	Dislocated hips Dislocation of hip [ more ]	0002827
Hypertriglyceridemia	Increased plasma triglycerides Increased serum triglycerides Increased triglycerides [ more ]	0002155
Insulin-resistant diabetes mellitus at puberty		0000877
Osteopenia		0000938
Prolonged QT interval		0001657
Regional abnormality of skin		0011356
Sinus tachycardia		0011703
Transient ischemic attack	Mini stroke	0002326
1%-4% of people have these symptoms
Delayed puberty	Delayed pubertal development Delayed pubertal growth Pubertal delay [ more ]	0000823
Left ventricular hypertrophy		0001712
Percent of people who have these symptoms is not available through HPO
Absence of subcutaneous fat	Absent fat below the skin Lack of fatty tissue below the skin [ more ]	0007485
Autosomal dominant inheritance		0000006
Autosomal recessive inheritance		0000007
Congestive heart failure	Cardiac failure Cardiac failures Heart failure [ more ]	0001635
Generalized osteoporosis		0040160
Growth delay	Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ]	0001510
Malar flattening	Zygomatic flattening	0000272
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Myocardial infarction	Heart attack	0001658
Osteolysis	Breakdown of bone	0002797
Precocious atherosclerosis		0004416

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 7/1/2020

Cause Cause

Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome.^[1]

The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.^[1]

Last updated: 10/28/2015

Treatment Treatment

Management for progeria generally focuses on the signs and symptoms of the condition and may include the following:

Exercise, diet modification, and medication when the lipid profile becomes abnormal
Frequent small meals to maximize caloric intake
Oral hydration
Use of shoe pads for foot discomfort due to lack of body fat
Use of sunscreen on all exposed areas of skin
Nitroglycerin for angina
Routine anticongestive therapy if congestive heart failure is present
Statins for their putative effect on farnesylation inhibition
Anticoagulation therapy if vascular blockage, transient ischemic attacks, stroke, angina, or heart attack occur
Routine physical and occupational therapy to help maintain range of motion in large and small joints^[4]

Although there is currently no cure for progeria, research involving treatments is ongoing and scientists have been making much progress. The results of a recently published phase II clinical trial provided preliminary evidence that lonafarnib, a farnesyltransferase inhibitor, may improve cardiovascular status, bone structure, and audiological (hearing) status in affected children.^[5] A free, full-text version of this study is available on PubMed and can be viewed by clicking here.

Last updated: 11/19/2012

Statistics Statistics

Progeria is very rare. It is reported to occur in 1 in 4-8 million newborns worldwide.^[1]^[2]^[3] It is estimated that at any one time, there are between 200-250 children living with progeria.^[3]

Last updated: 10/28/2015

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Progeria. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Progeria Research Foundation, Inc.
P.O. Box 3453
Peabody, MA 01961-3453
Telephone: 978-535-2594
Fax: 978-535-5849
E-mail: info@progeriaresearch.org
Website: http://www.progeriaresearch.org

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

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.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Progeria. This website is maintained by the National Library of Medicine.
The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
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.

News & Events News & Events

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

What chromosome is this disorder on? How many people are affected by this disorder? See answer
Where is the gene responsible for Hutchinson-Gilford progeria syndrome located? See answer

Have a question? Contact a GARD Information Specialist.

References References

Hutchinson-Gilford progeria syndrome. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome.
Learning About Progeria. National Human Genome Research Institute (NHGRI). December 27, 2013; http://www.genome.gov/11007255.
Progeria 101 / FAQ. Progeria Research Foundation. 2015; https://www.progeriaresearch.org/progeria-101faq/.
Leslie B Gordon, W Ted Brown, and Francis S Collins. Hutchinson-Gilford Progeria Syndrome. GeneReviews. January 6, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1121/.
Leslie B. Gordon, et al. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson–Gilford progeria syndrome. Proc Natl Acad Sci. October 9, 2012; 109(41):16666–16671. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3478615/.