The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormal trabecular bone morphology | Very frequent (present in 80%-99% of cases) |
| Absence of pubertal development | Very frequent (present in 80%-99% of cases) |
| Alopecia | Very frequent (present in 80%-99% of cases) |
| Aplastic clavicles | Very frequent (present in 80%-99% of cases) |
| Bilateral coxa valga | Very frequent (present in 80%-99% of cases) |
| Bird-like facies | Very frequent (present in 80%-99% of cases) |
| Craniofacial disproportion | Very frequent (present in 80%-99% of cases) |
| Decreased serum estradiol | Very frequent (present in 80%-99% of cases) |
| Decreased testosterone in males | Very frequent (present in 80%-99% of cases) |
| Delayed eruption of teeth | Very frequent (present in 80%-99% of cases) |
| Failure to thrive | Very frequent (present in 80%-99% of cases) |
| High pitched voice | Very frequent (present in 80%-99% of cases) |
| Hyperinsulinemia | Very frequent (present in 80%-99% of cases) |
| Hypogonadotrophic |
Very frequent (present in 80%-99% of cases) |
| Hypoplastic facial bones | Very frequent (present in 80%-99% of cases) |
| Infertility | Very frequent (present in 80%-99% of cases) |
| Joint stiffness | Very frequent (present in 80%-99% of cases) |
| Lipoatrophy | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Multiple joint |
Very frequent (present in 80%-99% of cases) |
| Narrow mouth | Very frequent (present in 80%-99% of cases) |
| Nasal speech | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Prominent forehead | Very frequent (present in 80%-99% of cases) |
| Prominent scalp veins | Very frequent (present in 80%-99% of cases) |
| Proptosis | Very frequent (present in 80%-99% of cases) |
| Sensorineural hearing impairment | Very frequent (present in 80%-99% of cases) |
| Short clavicles | Very frequent (present in 80%-99% of cases) |
| Sparse hair | Very frequent (present in 80%-99% of cases) |
| Thin bony cortex | Very frequent (present in 80%-99% of cases) |
| Thrombocytosis | Very frequent (present in 80%-99% of cases) |
| Absent eyelashes | Frequent (present in 30%-79% of cases) |
| Aminoaciduria | Frequent (present in 30%-79% of cases) |
| Angina pectoris | Frequent (present in 30%-79% of cases) |
| Aplasia/Hypoplasia of the earlobes | Frequent (present in 30%-79% of cases) |
| Arteriosclerosis of small cerebral arteries | Frequent (present in 30%-79% of cases) |
| Broad-based gait | Frequent (present in 30%-79% of cases) |
| Cyanosis | Frequent (present in 30%-79% of cases) |
| Hepatic steatosis | Frequent (present in 30%-79% of cases) |
| Hypermetropia | Frequent (present in 30%-79% of cases) |
| Hyperphosphatemia | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Hypodontia | Frequent (present in 30%-79% of cases) |
| Hypohidrosis | Frequent (present in 30%-79% of cases) |
| Hypoplastic nipples | Frequent (present in 30%-79% of cases) |
| Hypotrichosis | Frequent (present in 30%-79% of cases) |
| Intermittent claudication | Frequent (present in 30%-79% of cases) |
| Keratoconjunctivitis sicca | Frequent (present in 30%-79% of cases) |
| Kyphosis | Frequent (present in 30%-79% of cases) |
| Lack of skin elasticity | Frequent (present in 30%-79% of cases) |
| Macrotia | Frequent (present in 30%-79% of cases) |
| Metaphyseal widening | Frequent (present in 30%-79% of cases) |
| Nail dysplasia | Frequent (present in 30%-79% of cases) |
| Narrow nasal tip | Frequent (present in 30%-79% of cases) |
| Osteoarthritis | Frequent (present in 30%-79% of cases) |
| Ovoid vertebral bodies | Frequent (present in 30%-79% of cases) |
| Premature coronary artery disease | Frequent (present in 30%-79% of cases) |
| Premature graying of hair | Frequent (present in 30%-79% of cases) |
| Prolonged prothrombin time | Frequent (present in 30%-79% of cases) |
| Reticulated skin pigmentation | Frequent (present in 30%-79% of cases) |
| Sparse and thin eyebrow | Frequent (present in 30%-79% of cases) |
| Tapering pointed ends of distal finger phalanges | Frequent (present in 30%-79% of cases) |
| Thin nail | Frequent (present in 30%-79% of cases) |
| Thin ribs | Frequent (present in 30%-79% of cases) |
| Thin skin | Frequent (present in 30%-79% of cases) |
| Thin vermilion border | Frequent (present in 30%-79% of cases) |
| Widely patent fontanelles and sutures | Frequent (present in 30%-79% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Carotid artery stenosis | Occasional (present in 5%-29% of cases) |
| Dental crowding | Occasional (present in 5%-29% of cases) |
| Hip dislocation | Occasional (present in 5%-29% of cases) |
| Hypertriglyceridemia | Occasional (present in 5%-29% of cases) |
| Insulin-resistant |
Occasional (present in 5%-29% of cases) |
| Osteopenia | Occasional (present in 5%-29% of cases) |
| Prolonged QT interval | Occasional (present in 5%-29% of cases) |
| Regional abnormality of skin | Occasional (present in 5%-29% of cases) |
| Sinus tachycardia | Occasional (present in 5%-29% of cases) |
| Transient ischemic attack | Occasional (present in 5%-29% of cases) |
| Delayed puberty | Very rare (present in 1%-4% of cases) |
| Left ventricular hypertrophy | Very rare (present in 1%-4% of cases) |
| Absence of subcutaneous fat | - |
| - | |
| - | |
| Congestive heart failure | - |
| Generalized osteoporosis | - |
| Growth delay | - |
| Malar flattening | - |
| Midface retrusion | - |
| Myocardial infarction | - |
| Osteolysis | - |
| Precocious atherosclerosis | - |
The LMNA gene provides instructions for making a
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.
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.
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.
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.
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.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
Progeria Research Foundation Seeks Proposals for Next Funding Round
October 5, 2016
Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016
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
