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Progeria


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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


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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


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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


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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


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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


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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


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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


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

Find a Specialist Find a Specialist


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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


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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


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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


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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


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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


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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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.

Have a question? Contact a GARD Information Specialist.

References References


  1. Gordon LB, Brown WT, Collins FS. Hutchinson-Gilford Progeria Syndrome. GeneReviews. Updated Jan 17, 2019; http://www.ncbi.nlm.nih.gov/books/NBK1121/.
  2. 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/.
  3. 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/.
  4. 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/.
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