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International Registry of Werner Syndrome
D
iagnostic Criteria
Cardinal signs and symptoms (onset over 10 years old)
- Cataracts (bilateral)
- Characteristic dermatological pathology (tight skin, atrophic skin,
pigmentary alterations, ulceration, hyperkeratosis, regional subcutaneous
atrophy) and characteristic facies ('bird' facies)
- Short stature
- Parental consanguinity (3rd cousin or greater) or affected sibling
- Premature greying and/or thinning of scalp hair
- Positive 24-hour urinary hyaluronic acid test (when available)
Further signs and symptoms
- Diabetes mellitus
- Hypogonadism (secondary sexual underdevelopment, diminished fertility,
testicular or ovarian atrophy)
- Osteoporosis
- Osteosclerosis of distal phalanges of fingers and/or toes (x-ray diagnosis)
- Soft tissue calcification
- Evidence of premature atherosclerosis (e.g. history of myocardial infarction)
- Mesenchymal neoplasms, rare neoplasms or multiple neoplasms
- Voice changes (high-pitched, squeaky, or hoarse voice)
- Positive 24-hour urinary hyaluronic acid test (when available)
- Flat feet
- Definite: All the cardinal signs and two further signs
- Probable: The first three cardinal signs and any two others
- Possible: Either cataracts or dermatological alterations and any four others
- Exclusion: Onset of signs and symptoms before adolescence (except stature, since
current data on pre-adolescent growth patterns are inadequate)
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