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Start free with EleplanAtypical Werner syndrome
ORPHA:79474Disease
Also called Atypical progeroid syndrome
What it is
A 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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adolescent, Adult
- Inheritance
- Autosomal dominant, Unknown
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
72- Abnormal hair quantity
- Abnormal hair whorl
- Abnormality of circulating leptin level
- Abnormality of retinal pigmentation
- Abnormality of the Achilles tendon
- Abnormality of the cerebral vasculature
- Abnormality of the hair
- Abnormality of the pulmonary artery
- Abnormality of the voice
- Abnormal testis morphology
- Abnormal thorax morphology
- Alopecia
- Aortic valve calcification
- Aplasia/Hypoplasia of the eyebrow
- Aplasia/Hypoplasia of the skin
- Calf muscle hypertrophy
- Chondrocalcinosis
- Congestive heart failure
- Convex nasal ridge
- Coronaryartery atherosclerosis
- Decreased body weight
- Decreased fertility
- Delayed puberty
- Diabetes mellitus
- Failure to thrive
- Fasting hyperinsulinemia
- Fragile nails
- Generalized lipodystrophy
- Glycosuria
- Hepatic steatosis
- Hyperglycemia
- Hyperinsulinemia
- Hyperkeratosis
- Hypertension
- Hypertriglyceridemia
- Hypogonadism
- Insulin-resistant diabetes mellitus
- Lack of skin elasticity
- Laryngomalacia
- Limitation of joint mobility
- Lipoatrophy
- Micrognathia
- Narrow face
- Osteolytic defects of the phalanges of the hand
- Osteoporosis
- Osteosarcoma
- Patchy hypo- and hyperpigmentation
- Peripheral arterial stenosis
- Pes planus
- Pili torti
- Premature arteriosclerosis
- Premature graying of hair
- Prematurely aged appearance
- Premature ovarian insufficiency
- Progeroid facial appearance
- Progressive clavicular acroosteolysis
- Prominent superficial veins
- Reduced bone mineral density
- Rocker bottom foot
- Sclerosis of hand bone
- Secondary amenorrhea
- Short palm
- Short stature
- Skeletal muscle atrophy
- Skin ulcer
- Sparse body hair
- Subcutaneous calcification
- Telangiectasia of the skin
- Thin skin
- Thin vermilion border
- Type II diabetes mellitus
- White forelock
Common30–79%
12These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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