Atypical Werner syndrome

Title

Other Names:

Atypical progeroid syndrome

Categories:

Congenital and Genetic Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 79474

Definition

An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

Epidemiology

The prevalence is unknown.

Clinical description

Atypical WS shows accelerated aging characterized by short stature, thinning/graying of hair, a ''bird-like'' facial appearance, skin atrophy, lipodystrophy, myopathy along with other age-related disorders such as osteoporosis and atherosclerosis. Compared to WS, it has an earlier age of onset (early 20s or earlier) and a more rapid rate of progression. Cataracts are often not present.

Etiology

A subset of atypical WS is caused by the mutation of the LMNA gene, the same causal gene seen in Hutchinson-Gilford progeria syndrome (HGPS; see this term) that codes for the nuclear intermediate filament, lamin A/C. The LMNA type of atypical WS follows an autosomal dominant pattern of inheritance. Additional causes of atypical WS are being discovered, and their inheritance patterns elucidated.

Visit the Orphanet disease page for more resources.

Last updated: 4/1/2012

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 Abnormal whorl of hair [ more ]	0010721
Abnormal testis morphology	Abnormality of the testis	0000035
Abnormality of circulating leptin level		0004361
Abnormality of retinal pigmentation		0007703
Abnormality of the Achilles tendon		0005109
Abnormality of the cerebral vasculature	Abnormality of the cerebral blood vessels	0100659
Abnormality of the pulmonary artery	Abnormality of lung artery	0004414
Abnormality of the voice	Voice abnormality	0001608
Alopecia	Hair loss	0001596
Aortic valve calcification		0004380
Aplasia/Hypoplasia of the eyebrow	Absence of eyebrow Lack of eyebrow Missing eyebrow [ more ]	0100840
Calf muscle hypertrophy	Increased size of calf muscles	0008981
Chondrocalcinosis	Calcium deposits in joints	0000934
Congestive heart failure	Cardiac failure Cardiac failures Heart failure [ more ]	0001635
Convex nasal ridge	Beaked nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ]	0000444
Coronary artery atherosclerosis	Plaque build-up in arteries supplying blood to heart	0001677
Decreased fertility	Abnormal fertility	0000144
Delayed puberty	Delayed pubertal development Delayed pubertal growth Pubertal delay [ more ]	0000823
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Fasting hyperinsulinemia	High blood insulin levels while fasting	0008283
Fragile nails	Brittle nails	0001808
Generalized lipodystrophy		0009064
Glycosuria	Glucose in urine	0003076
Hepatic steatosis	Fatty infiltration of liver Fatty liver [ more ]	0001397
Hyperglycemia	High blood sugar	0003074
Hyperkeratosis		0000962
Hypertension		0000822
Hypertriglyceridemia	Increased plasma triglycerides Increased serum triglycerides Increased triglycerides [ more ]	0002155
Hypogonadism	Decreased activity of gonads	0000135
Insulin-resistant diabetes mellitus	Insulin resistant diabetes Insulin-resistant diabetes [ more ]	0000831
Lack of skin elasticity		0100679
Laryngomalacia	Softening of voice box tissue	0001601
Limitation of joint mobility	Decreased joint mobility Decreased mobility of joints Limited joint mobility Limited joint motion [ more ]	0001376
Lipoatrophy	Loss of fat tissue in localized area	0100578
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Narrow face	Decreased breadth of face Decreased width of face [ more ]	0000275
Osteolytic defects of the phalanges of the hand	Breakdown of small bones of fingers	0009771
Osteoporosis		0000939
Osteosarcoma	Bone cell cancer	0002669
Patchy hypo- and hyperpigmentation		0007509
Peripheral arterial stenosis		0004950
Pes planus	Flat feet Flat foot [ more ]	0001763
Pili torti	Flattened and twisted hair	0003777
Premature arteriosclerosis		0005177
Premature graying of hair	Early graying Premature graying Premature greying Premature hair graying [ more ]	0002216
Premature ovarian insufficiency	Early menopause Premature menopause Premature ovarian failure [ more ]	0008209
Progeroid facial appearance	Premature aged appearance	0005328
Progressive clavicular acroosteolysis		0000905
Prominent superficial veins	Prominent veins	0001015
Rocker bottom foot	Rocker bottom feet Rocker-bottom feet Rockerbottom feet [ more ]	0001838
Sclerosis of hand bone	Increased bone density in hand bone	0004054
Secondary amenorrhea	Previous menstrual periods stop	0000869
Short palm		0004279
Short stature	Decreased body height Small stature [ more ]	0004322
Skeletal muscle atrophy	Muscle degeneration Muscle wasting [ more ]	0003202
Skin ulcer	Open skin sore	0200042
Sparse body hair		0002231
Subcutaneous calcification	Skin calcification	0007618
Telangiectasia of the skin		0100585
Thin skin		0000963
Thin vermilion border	Decreased volume of lip Thin lips [ more ]	0000233
Type II diabetes mellitus	Noninsulin-dependent diabetes Type 2 diabetes Type II diabetes [ more ]	0005978
White forelock	White part of hair above forehead	0002211
30%-79% of people have these symptoms
Aortic valve stenosis	Narrowing of aortic valve	0001650
Intervertebral disc degeneration		0008419
Meningioma		0002858
Neoplasm of the breast	Breast tumor Tumours of the breast [ more ]	0100013
Neoplasm of the lung	Lung tumor	0100526
Neoplasm of the oral cavity		0100649
Neoplasm of the skin	Skin tumors Tumor of the skin [ more ]	0008069
Neoplasm of the small intestine	Small intestine tumor	0100833
Neoplasm of the thyroid gland		0100031
Ovarian neoplasm	Ovarian tumor	0100615
Renal neoplasm	Renal tumors	0009726
Retinal degeneration	Retina degeneration	0000546
5%-29% of people have these symptoms
Developmental cataract	Clouding of the lens of the eye at birth	0000519
Exercise-induced myalgia	Exercise-induced muscle pain Muscle pain on exercise Muscle pain with exercise Muscle pain, exercise-induced [ more ]	0003738
Finger clinodactyly		0040019
Hip dysplasia		0001385
Mitral valve prolapse		0001634

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Last updated: 7/1/2020

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.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Atypical Werner syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Atypical Werner syndrome:
International Registry of Werner Syndrome

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.

In-Depth Information

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

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