International Registry of Werner Syndrome

D iagnostic Criteria


Cardinal signs and symptoms (onset over 10 years old)

  1. Cataracts (bilateral)
  2. Characteristic dermatological pathology (tight skin, atrophic skin, pigmentary alterations, ulceration, hyperkeratosis, regional subcutaneous atrophy) and characteristic facies ('bird' facies)
  3. Short stature
  4. Parental consanguinity (3rd cousin or greater) or affected sibling
  5. Premature greying and/or thinning of scalp hair
Further signs and symptoms

  1. Diabetes mellitus
  2. Hypogonadism (secondary sexual underdevelopment, diminished fertility, testicular or ovarian atrophy)
  3. Osteoporosis
  4. Osteosclerosis of distal phalanges of fingers and/or toes (x-ray diagnosis)
  5. Soft tissue calcification
  6. Evidence of premature atherosclerosis (e.g. history of myocardial infarction)
  7. Mesenchymal neoplasms, rare neoplasms or multiple neoplasms
  8. Voice changes (high-pitched, squeaky, or hoarse voice)
  9. 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)

Urinary and serum concentration of hyaluronic acid may be increased in some individuals with Werner syndrome. Although an increase in urinary hyaluronic acid was used in the past to support the diagnosis of Werner syndrome, this testing is cumbersome and nonspecific, and thus not recommended.


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Last updated: 11/07/2014