Rare Pediatrics News
Disease Profile
Atypical 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.
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.
0
Age of onset
Adult
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Atypical progeroid syndrome
Categories
Congenital and Genetic Diseases
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.
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.
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.
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 |
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 | |
| 0000822 | ||
| Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] |
0002155 |
|
Decreased activity of gonads
|
0000135 | |
| Insulin-resistant |
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 |
|
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 |
| 0000939 | ||
| Osteosarcoma |
Bone cell cancer
|
0002669 |
| Patchy hypoand 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 | |
|
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
< Learn moreThese 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
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