Rare Medical News

Disease Profile

Werner syndrome

Prevalence
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.
1-9 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Adolescent

ICD-10

E34.8

Inheritance

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

no.svg

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

rnn-autosomalrecessive.svg

X-linked
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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

WRN; Werner's syndrome

Categories

Congenital and Genetic Diseases; Eye diseases; Rare Cancers;

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]

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.

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:
HPO ID
80%-99% of people have these symptoms
Abnormal hair whorl
Abnormal hair whorls
Abnormal whorl of hair

[ more ]

0010721
Abnormal thorax morphology
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
Reduced/lack of hair on scalp
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
Body fails to respond to insulin
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
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
Abnormal hair morphology
Abnormality of the hair
Hair abnormality

[ more ]

0001595
Autosomal recessive inheritance
0000007

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.

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

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]

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 Merck Manual 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.

References

  1. Oshima J, Martin GM, Hisama FM. Werner Syndrome. GeneReviews. Updated Sept 29, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1514/.
  2. Werner syndrome. Genetics Home Reference (GHR). Dec 2012; https://ghr.nlm.nih.gov/condition/werner-syndrome.
  3. Werner syndrome. National Organization for Rare Disorders (NORD). Updated 2018; https://rarediseases.org/rare-diseases/werner-syndrome/.
  4. 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.

Rare Medical News