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Disease Profile


Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Hutchinson Gilford progeria syndrome; Hutchinson Gilford syndrome; HGPS


Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases;


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]


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]

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.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Absence of subcutaneous fat
Absent fat below the skin
Lack of fatty tissue below the skin

[ more ]

Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

Little lower jaw
Small jaw
Small lower jaw

[ more ]

Narrow mouth
Small mouth
Premature skin wrinkling
Prominent superficial blood vessels
Prominent superficial vasculature
Prominent umbilicus
Prominent belly button
Prominent navel

[ more ]

Pubertal developmental failure in females
Severe failure to thrive
Severe faltering weight
Severe weight faltering

[ more ]

Thin vermilion border
Decreased volume of lip
Thin lips

[ more ]

Weight loss
30%-79% of people have these symptoms
Alopecia totalis
Tongue tied
Narrowing and hardening of arteries
Coxa valga
Craniofacial disproportion
Decreased serum leptin
Delayed menarche
Delayed start of first period
Dystrophic fingernails
Poor fingernail formation
Dystrophic toenail
Poor toenail formation
Exertional dyspnea
Female hypogonadism
High palate
Elevated palate
Increased palatal height

[ more ]

High pitched voice
Hip dislocation
Dislocated hips
Dislocation of hip

[ more ]

Hypoplastic male external genitalia
Small male external genitalia
Underdeveloped male genitalia

[ more ]

Insulin resistance
Body fails to respond to insulin
Lack of skin elasticity
Left ventricular diastolic dysfunction
Low-frequency sensorineural hearing impairment
Narrow nasal ridge
Decreased width of nasal ridge
Pinched nose
Thin nasal ridge

[ more ]

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 ]

Patchy alopecia
Patchy baldness
Relative macrocephaly
Relatively large head
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

Shallow orbits
Decreased depth of eye sockets
Shallow eye sockets

[ more ]

Short lingual frenulum
Shuffling gait
Shuffled walk
5%-29% of people have these symptoms
Absent eyebrow
Failure of development of eyebrows
Aortic regurgitation
Aortic valve calcification
Aortic valve stenosis
Narrowing of aortic valve
Avascular necrosis
Death of bone due to decreased blood supply
Carotid artery occlusion
Obstructed carotid artery
Convex nasal ridge
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity

[ more ]

Corneal opacity
Blue discoloration of the skin
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth

[ more ]

Dermal atrophy
Skin degeneration
High-frequency sensorineural hearing impairment
Hip pain
Hypermelanotic macule
Hyperpigmented spots
Failure of development of between one and six teeth
Impacted tooth
Intracranial hemorrhage
Bleeding within the skull
Joint stiffness
Stiff joint
Stiff joints

[ more ]



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]


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


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

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


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

    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.


        1. Gordon LB, Brown WT, Collins FS. Hutchinson-Gilford Progeria Syndrome. GeneReviews. Updated Jan 17, 2019; https://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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