Werner's syndrome

Title

Other Names:

Werner syndrome; WRN

Categories:

Congenital and Genetic Diseases; Eye diseases; Rare Cancers; Congenital and Genetic Diseases; Eye diseases; Rare Cancers; Skin Diseases See More

Summary Summary

Werner's syndrome is a disease chiefly characterized by premature aging and cancer predisposition. Development is typically normal until the end of the first decade; the first sign is the lack of a growth spurt during puberty. Early signs (usually in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction (heart attack) and cancer are the most common causes of death, which typically occurs in the late 40s. It is caused by mutations in the WRN gene and is inherited in an autosomal recessive manner. Management focuses on treatment of signs and symptoms and prevention of secondary complications.^[1]

Last updated: 4/29/2011

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 hair whorl	Abnormal hair whorls	0010721
Abnormality of the thorax	Abnormality of the chest	0000765
Abnormality of the voice	Voice abnormality	0001608
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Convex nasal ridge	Beaked nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ]	0000444
Hypogonadism	Decreased activity of gonads	0000135
Lipoatrophy	Loss of fat tissue in localized area	0100578
Osteoporosis		0000939
Pili torti	Flattened and twisted hair	0003777
Premature graying of hair	Early graying Premature graying Premature greying Premature hair graying [ more ]	0002216
Short stature	Decreased body height Small stature [ more ]	0004322
Slender build	Thin build	0001533
Sparse scalp hair	Scalp hair, thinning Sparse, thin scalp hair sparse-absent scalp hair [ more ]	0002209
White forelock		0002211
30%-79% of people have these symptoms
Abnormality of retinal pigmentation		0007703
Aplasia/Hypoplasia of the skin	Absent/small skin Absent/underdeveloped skin [ more ]	0008065
Aplasia/Hypoplasia of the testes	Absent/small testes Absent/underdeveloped testes [ more ]	0010468
Atherosclerosis	Narrowing and hardening of arteries	0002621
Chondrocalcinosis	Calcium deposits in joints	0000934
Congestive heart failure	Cardiac failure Cardiac failures Heart failure [ more ]	0001635
Decreased fertility	Abnormal fertility	0000144
Hyperkeratosis		0000962
Increased bone mineral density	Increased bone density	0011001
Insulin resistance		0000855
Lack of skin elasticity		0100679
Myocardial infarction	Heart attack	0001658
Narrow face	Decreased breadth of face Decreased width of face [ more ]	0000275
Pulmonary artery stenosis	Narrowing of lung artery	0004415
Rocker bottom foot	Rocker bottom feet Rocker-bottom feet Rockerbottom feet [ more ]	0001838
Skeletal muscle atrophy	Muscle degeneration Muscle wasting [ more ]	0003202
Skin ulcer	Open skin sore	0200042
Small hand	Disproportionately small hands	0200055
Subcutaneous calcification	Skin calcification	0007618
Telangiectasia of the skin		0100585
Type II diabetes mellitus	Noninsulin-dependent diabetes Type 2 diabetes Type II diabetes [ more ]	0005978
5%-29% of people have these symptoms
Abnormality of the cerebral vasculature	Abnormality of the cerebral blood vessels	0100659
Acral lentiginous melanoma		0012060
Breast carcinoma	Breast cancer	0003002
Gastrointestinal carcinoma		0002672
Hypertension		0000822
Joint stiffness	Stiff joint Stiff joints [ more ]	0001387
Laryngomalacia	Softening of voice box tissue	0001601
Meningioma		0002858
Neoplasm of the lung	Lung tumor	0100526
Neoplasm of the oral cavity	Tumor of mouth	0100649
Neoplasm of the small intestine	Small intestine tumor	0100833
Ovarian neoplasm	Ovarian tumor	0100615
Renal neoplasm	Renal tumors	0009726
Sarcoma		0100242
Secondary amenorrhea		0000869
Spontaneous abortion		0005268
Squamous cell carcinoma		0002860
Thyroid carcinoma		0002890
Percent of people who have these symptoms is not available through HPO
Abnormality of the hair	Hair abnormality	0001595
Autosomal recessive inheritance		0000007
Diabetes mellitus		0000819
Osteosarcoma		0002669
Premature arteriosclerosis		0005177
Progeroid facial appearance		0005328
Retinal degeneration	Retina degeneration	0000546
Scleroderma		0100324

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

Last updated: 12/1/2018

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

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include mandibuloacral dysplasia (MAD), partial lipodystrophy, Rothmund-Thomson syndrome (RTS) and Hutchinson-Gilford progeria syndrome (HGPS; see these terms). Type 2 diabetes mellitus can also share similarities with WS. Visit the Orphanet disease page for more information.

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 Werner's syndrome. 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.

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 Werner's syndrome. This website is maintained by the National Library of Medicine.
The !LINK! provides information on this condition for patients and caregivers.
The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. Click on the link to view information on this topic.
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 Werner's syndrome. Click on the link to view a sample search on this topic.

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.

Have a question? Contact a GARD Information Specialist.

References References

Dru F Leistritz, Nancy Hanson, George M Martin, Junko Oshima . Werner Syndrome. GeneReviews. March 8, 2007; http://www.ncbi.nlm.nih.gov/books/NBK1514/. Accessed 4/29/2011.

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