Werner syndrome

Title

Other Names:

WRN; Werner's syndrome

Categories:

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

Summary Summary

Werner syndrome is a condition that causes premature aging. People with this syndrome will develop and grow normally until puberty. At puberty, growth stops and adults with Werner syndrome are typically shorter than average. By the early 20s-30s, people with this syndrome develop conditions usually associated with more advanced ages. In addition, people with Werner syndrome have an increased risk of developing cancer, especially thyroid and skin cancers. Heart attack and cancer are the most common causes of death. Werner syndrome is caused by mutations in the WRN gene and is inherited in an autosomal recessive manner. This condition is diagnosed based on the symptoms and genetic testing. Treatment is based on individual symptoms and focuses on prevention of heart disease and cancer.^[1]^[2]^[3]^[4]

Last updated: 2/21/2019

Symptoms Symptoms

The signs and symptoms of Werner syndrome do not usually appear until the teens. This first sign may be slower than normal growth during puberty. In the 20s-30s, other signs of early aging appear. Some of the signs and symptoms of Werner syndrome include:^[1]^[4]

• Shorter than average height as an adult
• Bilateral cataracts (clouding of the lens of both eyes )
• Premature graying and thinning of the hair on the head
• Skin changes (thinning of skin, fragile skin)
• Loss of fat under the skin
• Thin limbs
• Characteristic facial changes (pinched nose, narrow face)
• Voice changes
• Decreased functioning of the testes and ovaries
• Decreased fertility
• Open skin sores, especially on the ankles
• Narrowing and hardening of the arteries (atherosclerosis)
• Type 2 diabetes mellitus
• Thinning of the bones (osteoporosis)
• Cancer

Not everyone with Werner syndrome will have all of these symptoms.

Last updated: 2/21/2019

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	White part of hair above forehead	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	Cancer of connective tissue Malignant connective tissue tumor [ more ]	0100242
Secondary amenorrhea	Previous menstrual periods stop	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	Bone cell cancer	0002669
Premature arteriosclerosis		0005177
Progeroid facial appearance	Premature aged appearance	0005328
Retinal degeneration	Retina degeneration	0000546
Scleroderma		0100324

Showing of 61 |

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

Last updated: 2/1/2019

Cause Cause

Werner syndrome is caused by a genetic change (mutation) in the WRN gene. This gene makes a protein that is involved with repairing damage to DNA and maintaining the structure of DNA.^[2]

Last updated: 2/21/2019

Inheritance Inheritance

Werner syndrome is inherited in an autosomal recessive pattern.^[1] All individuals inherit two copies of each gene. To have Werner syndrome, a person must have a mutation in both copies of the WRN gene in each cell. There is nothing either parent can do, before or during pregnancy, to cause a child to have this.

People with autosomal recessive conditions inherit one mutation from each of their parents. The parents, who each have one mutation, are known as carriers. Carriers of an autosomal recessive disorder typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, each child has a:

25% (1 in 4) chance to have the disorder
50% (1 in 2) chance to be an unaffected carrier like each parent
25% (1 in 4) chance to be unaffected and not be a carrier

.

Last updated: 2/21/2019

Diagnosis Diagnosis

The diagnosis of Werner syndrome is made based on a clinical examination and the symptoms.^[4] Genetic testing looking for changes in the WRN gene is also helpful.

Last updated: 2/21/2019

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.

Treatment Treatment

There is no specific treatment for Werner syndrome. The treatment is based on managing the symptoms of the condition. Medications can be used to help manage diabetes and heart disease.^[1]

Last updated: 2/21/2019

Prognosis Prognosis

People with Werner syndrome develop conditions usually associated with advanced age in their 20s-30s. In general, people with Werner syndrome have a shorter than average life span. The most common causes of death are heart attack and cancer. Most people with this condition die in their late-40s to mid-50s, but this depends on how well the symptoms are managed and the presence of other health conditions.^[4]

Last updated: 2/21/2019

Statistics Statistics

In the United States, it is estimated that about 1 in 200,000 people has Werner syndrome. Worldwide, the prevalence is estimated to be 1 in 380,000 to 1 in 1,000,000.^[1]

Last updated: 2/21/2019

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

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.

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 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 syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NIH Hosts Rare Disease Day Event, Twitter Chat
January 24, 2019

NCATS Co-Sponsored Conferences

The Helicase and Nucleic Acid-based Machine Conference Sunday, July 21, 2019 - Friday, July 26, 2019
Location: The Steamboat Grand, Steamboat Springs, CO
Description: Malfunctions of helicases and nucleic acid-based machines are implicated in a number of rare genetic disorders. Specifically, hereditary mutations in helicase genes are linked to rare diseases including Werner Syndrome, Bloom’s Syndrome, Rothmund-Thomson Syndrome, Cockayne Syndrome, Xeroderma Pigmentosum, Trichothiodystrophy, Warsaw Breakage Syndrome, Fanconi Anemia, Dyskeratosis Congenita, Crohn’s Disease, Ophthalmoplegia, and others. This FASEB meeting, which was first held in 2001, examines the roles of these and related helicases in genome metabolism and rare diseases. The meeting is the only one of its kind to focus on the functions, interactions and structures of helicases and helicase-like motors as components of fundamentally important supramolecular machines, and it explores their regulation and key roles in uncommon genetic disorders characterized by defects in DNA repair and genomic stability. The conference brings together a diverse group of academic and industry scientists who focus on the functional roles of helicases and helicase-like motors in pathways of nucleic acid metabolism.

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Have a question? Contact a GARD Information Specialist.

References References

Oshima J, Martin GM, Hisama FM. Werner Syndrome. GeneReviews. Updated Sept 29, 2016; http://www.ncbi.nlm.nih.gov/books/NBK1514/.
Werner syndrome. Genetics Home Reference (GHR). Dec 2012; https://ghr.nlm.nih.gov/condition/werner-syndrome.
Werner syndrome. National Organization for Rare Disorders (NORD). Updated 2018; https://rarediseases.org/rare-diseases/werner-syndrome/.
Oshima J, Sidorva JM, Monnat RJ Jr. Werner syndrome: Clinical features, pathogenesis, and potential therapeutic interventions. Ageing Res Rev. Jan 2017; 33:105-114. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5025328.