| International Registry of Werner Syndrome[1] | Japanese Registry[2] |
- Cardinal signs and symptoms (onset over 10 years old)
| - Cardinal signs and symptoms (onset over 10 until 40 years of age)
|
- Bilateral ocular cataracts
- Characteristic dermatologic pathology
- Short stature
- Premature graying and/or thinning of scalp hair
| - Progeroid changes of hair (gray hair, baldness, etc)
- Cataract (bilateral)
- Changes of skin, intractable skin ulcers (atrophic skin, tight skin, clavus, callus)
- Soft tissue calcification (Achilles tendon, etc)
- Bird-like face
- Abnormal voice (high-pitched, squeaky, hoarse voice)
|
- Additional signs and symptoms
| - Other signs and symptoms
|
- Type 2 diabetes mellitus
- Hypogonadism
- Osteoporosis
- Soft tissue calcification
- Atherosclerosis
- Neoplasms
- Voice change
| - Abnormal glucose and/or lipid metabolism (high-pitched, squeaky, hoarse voice)
- Deformation and abnormality of the bone (osteoporosis, etc)
- Malignant tumors (nonepithelial tumors, thyroid cancer, etc)
- Parental consanguinity
- Premature atherosclerosis (angina pectoris, myocardial infarction)
- Hypogonadism
- Short stature and low bodyweight
|
- Diagnostic confidence
| - Diagnostic assessment
|
- Definite – All the cardinal signs and 2 others.
- Probable – The first 3 cardinal signs and any 2 others.
- Possible – Either cataracts or dermatologic alterations and any 4 others.
- Exclusion – Onset of signs and symptoms before adolescence (except stature).
| - Confirmed – All cardinal signs are present or a pathogenic WRN mutation is identified in addition to ≥3 cardinal signs.
- Suspected – ≥2 cardinal signs or 1 to 2 cardinal signs in addition to ≥1 additional sign.
|
| | Addendum – Developmental delay is seldom found in Werner syndrome, and cognitive function is often appropriate for the age. |
