Progeria

Title

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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 leads to extreme premature aging and affects many different body systems. The symptoms begin within a year of life with poor growth and weight gain. Children with progeria have a characteristic facial appearance with a large head, small mouth and chin, narrow nose and large eyes. Other symptoms include baldness, loss of fat under the skin, and dental and joint abnormalities. They also often have symptoms typically seen in much older people including joint stiffness, hip dislocations and severe, progressive heart disease. Intelligence is typically normal. Most people with progeria die in their teens from a heart attack or stroke. Progeria is caused by a genetic variant in the LMNA gene. This variant usually arises as a new change in the genetic material and is not inherited from a parent. Diagnosis is based on the symptoms, clinical exam, and may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms. A new treatment is available that may help people with progeria live longer.^[1]^[2]^[3]

Last updated: 12/10/2020

Symptoms Symptoms

The following list includes the most common signs and symptoms in people with progeria. These features may be different from person to person. Some people may have more symptoms than others, and they can range from mild to severe. This list does not include every symptom that has been described in the condition.

Signs and symptoms may include:^[1]^[3]^[4]

Poor growth (failure to thrive)
Large head size relative to face
Loss of fat under the skin
Delayed eruption of teeth and other dental abnormalities
Baldness (alopecia)
Stiff joints
Thin, weak bones (osteoporosis)
Progressive heart disease
Normal intelligence

In the first years of life, growth delay, loss of fat, skin changes, and baldness may occur. Children with progeria have many symptoms of aging typically seen in older adults. These can include joint stiffness, loss of teeth, osteoporosis, hearing loss, and heart disease. Most people with this condition die in their teens from a heart attack or stroke.^[1]^[4]

Last updated: 12/10/2020

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.

Showing of 96 |

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Absence of subcutaneous fat	Absent fat below the skin Lack of fatty tissue below the skin [ more ]	0007485
Conductive hearing impairment	Conductive deafness Conductive hearing loss [ more ]	0000405
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Narrow mouth	Small mouth	0000160
Premature skin wrinkling		0100678
Prominent superficial blood vessels	Prominent superficial vasculature	0007394
Prominent umbilicus	Prominent belly button Prominent navel [ more ]	0001544
Pubertal developmental failure in females		0008647
Severe failure to thrive	Severe faltering weight Severe weight faltering [ more ]	0001525
Thin vermilion border	Decreased volume of lip Thin lips [ more ]	0000233
Weight loss		0001824
30%-79% of people have these symptoms
Alopecia totalis		0007418
Ankyloglossia	Tongue tied	0010296
Atherosclerosis	Narrowing and hardening of arteries	0002621
Coxa valga		0002673
Craniofacial disproportion		0005461
Decreased serum leptin		0003292
Delayed menarche	Delayed start of first period	0012569
Dystrophic fingernails	Poor fingernail formation	0008391
Dystrophic toenail	Poor toenail formation	0001810
Exertional dyspnea		0002875
Female hypogonadism		0000134
High palate	Elevated palate Increased palatal height [ more ]	0000218
High pitched voice		0001620
Hip dislocation	Dislocated hips Dislocation of hip [ more ]	0002827
Hypoplastic male external genitalia	Small male external genitalia Underdeveloped male genitalia [ more ]	0000050
Insulin resistance	Body fails to respond to insulin	0000855
Lack of skin elasticity		0100679
Left ventricular diastolic dysfunction		0025168
Low-frequency sensorineural hearing impairment		0008573
Narrow nasal ridge	Decreased width of nasal ridge Pinched nose Thin nasal ridge [ more ]	0000418
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
Patchy alopecia	Patchy baldness	0002232
Relative macrocephaly	Relatively large head	0004482
Retrognathia	Receding chin Receding lower jaw Weak chin Weak jaw [ more ]	0000278
Shallow orbits	Decreased depth of eye sockets Shallow eye sockets [ more ]	0000586
Short lingual frenulum		0000200
Shuffling gait	Shuffled walk	0002362
5%-29% of people have these symptoms
Absent eyebrow	Failure of development of eyebrows	0002223
Aortic regurgitation		0001659
Aortic valve calcification		0004380
Aortic valve stenosis	Narrowing of aortic valve	0001650
Avascular necrosis	Death of bone due to decreased blood supply	0010885
Carotid artery occlusion	Obstructed carotid artery	0012474
Convex nasal ridge	Beaked nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ]	0000444
Corneal opacity		0007957
Cyanosis	Blue discoloration of the skin	0000961
Delayed eruption of teeth	Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ]	0000684
Dental crowding	Crowded teeth Dental overcrowding Overcrowding of teeth [ more ]	0000678
Dermal atrophy	Skin degeneration	0004334
High-frequency sensorineural hearing impairment		0001757
Hip pain		0030838
Hypermelanotic macule	Hyperpigmented spots	0001034
Hypertension		0000822
Hypodontia	Failure of development of between one and six teeth	0000668
Impacted tooth		0011079
Intracranial hemorrhage	Bleeding within the skull	0002170
Joint stiffness	Stiff joint Stiff joints [ more ]	0001387
Limitation of movement at ankles		0010505
Limited hip movement		0008800
Limited shoulder movement		0006467
Limited wrist movement	Limited movement of the wrist	0006248
Loss of eyelashes	Eyelashes fell out Missing eyelashes [ more ]	0011457
Mitral regurgitation		0001653
Mitral stenosis		0001718
Mitral valve calcification		0004382
Myocardial infarction	Heart attack	0001658
Nocturnal lagophthalmos	Eyelids stay open at night Inability to close the eyelids at night [ more ]	0030002
Osteoarthritis	Degenerative joint disease	0002758
Osteolytic defects of the distal phalanges of the hand		0009839
Papule		0200034
Persistence of primary teeth	Delayed loss of baby teeth Failure to lose baby teeth Retained baby teeth [ more ]	0006335
Progressive clavicular acroosteolysis		0000905
Prominent ear helix		0009904
Raynaud phenomenon		0030880
Reduced bone mineral density	Low solidness and mass of the bones	0004349
Short chin	Decreased height of chin Short lower third of face [ more ]	0000331
Short clavicles	Short collarbone	0000894
Transient ischemic attack	Mini stroke	0002326
Upper airway obstruction		0002781
Ventricular hypertrophy		0001714
1%-4% of people have these symptoms
Angina pectoris		0001681
Corneal ulceration		0012804
Left ventricular systolic dysfunction		0025169
Pulmonary arterial hypertension	Increased blood pressure in blood vessels of lungs	0002092
Percent of people who have these symptoms is not available through HPO
Alopecia	Hair loss	0001596
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
Osteolysis	Breakdown of bone	0002797
Precocious atherosclerosis		0004416
Premature coronary artery atherosclerosis	Premature coronary artery disease	0005181

Showing of 96 |

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

Last updated: 2/1/2021

Cause Cause

Progeria occurs when the LMNA gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all. One specific variant in the LMNA gene is responsible for most of the cases of Hutchinson-Gilford progeria.^[1]

Last updated: 12/10/2020

Inheritance Inheritance

Although progeria is considered an autosomal dominant condition, it is seldom inherited in families. All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one pathogenic variant on one copy of a gene is necessary to have the condition. The variant can be inherited from either parent. In the case of progeria, most people develop this condition, because of a new genetic variant (de novo), and there is no history of this condition in the family.^[1]

Last updated: 12/10/2020

Diagnosis Diagnosis

Progeria is diagnosed based on the symptoms, a clinical exam, and may be confirmed by the results of genetic testing.^[1]

Last updated: 12/10/2020

Treatment Treatment

Treatment for progeria is focused on managing the symptoms. Treatment options may include diet modifications, treatment of heart disease, and physical therapy. One FDA-approved medication, lonafarnib, seems to improve cardiovascular status, bone structure, and life expectancy in affected children.^[2]

Specialists involved in the care of someone with progeria may include:^[1]

Neurologist
Dermatologist
Dentist
Orthopedist
Cardiologist
Nutritionist
Otolaryngologist
Medical geneticist

Last updated: 12/10/2020

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Lonafarnib (Brand name: Zokinvy) - Manufactured by Eiger Pharmaceuticals
FDA-approved indication: ZOKINVY is a farnesyltransferase inhibitor indicated in patients 12 months of age and older with a body surface area of 0.39 m2 and above (1): • To reduce risk of mortality in Hutchinson-Gilford Progeria Syndrome • For treatment of processing-deficient Progeroid Laminopathies with either: Heterozygous LMNA mutation with progerin-like protein accumulation Homozygous or compound heterozygous ZMPSTE24 mutations
National Library of Medicine Drug Information Portal

Statistics Statistics

It has been estimated that about 1 in 4,000,000 babies are born with progeria and about 1 in 20 million people in the world have this condition.^[1]

Last updated: 12/10/2020

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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 MedlinePlus Genetics.

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

Rare Disease Day at NIH 2021
March 1, 2021

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References References

Gordon LB, Brown WT, Collins FS. Hutchinson-Gilford Progeria Syndrome. GeneReviews. Updated Jan 17, 2019; http://www.ncbi.nlm.nih.gov/books/NBK1121/.
Gordon LB, Shappell H, Massaro J, D'Agostino RB Sr, Brazier J, Campbell SE, Kleinman ME, Kieran MW.. Association of Lonafarnib Treatment vs No Treatment With Mortality Rate in Patients With Hutchinson-Gilford Progeria Syndrome.. JAMA. Apr 24, 2018; 319(16):1687-1695. https://pubmed.ncbi.nlm.nih.gov/29710166/.
Ahmed MS, Ikram S, Bibi N, Mir A. Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease. Mol Neurobiol. May 2018; 55(5):4417-4427. https://pubmed.ncbi.nlm.nih.gov/28660486/.
Kreienkamp R, Gonzalo S. Hutchinson-Gilford Progeria Syndrome: Challenges at Bench and Bedside. Subcell Biochem. 2019;91:435-451.. 2019; 91:435-451. https://pubmed.ncbi.nlm.nih.gov/30888661/.