Skip to main content
. Author manuscript; available in PMC: 2018 Jan 1.
Published in final edited form as: Ageing Res Rev. 2016 Mar 15;33:105–114. doi: 10.1016/j.arr.2016.03.002

Table 1.

Diagnostic criteria of Werner syndrome

International Registry of Werner Syndrome (Oshima et al., 2014) Japanese Registry (Takemoto et al., 2013)
I. 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 (3d cousin or greater) or affected sibling.

  5. Premature greying and/or thinning of scalp hair.

 I. Cardinal signs and symptoms (onset over 10 until 40years-of-age)

  1. Progeroid changes of hair (Gray hair, baldness, etc)

  2. Cataract (Bilateral)

  3. Changes of skin, Intractable skin ulcers (Atrophic skin, tight skin, clavus, callus)

  4. Soft-tissue calcification (Achilles tendon, etc)

  5. Bird-like face

  6. Abnormal voice (High pitched, squeaky, hoarse voice)
II. 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

  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

 II. Other signs and symptoms

  1. Abnormal glucose and/or lipid metabolism (High pitched, squeaky, hoarse voice)

  2. Deformation and abnormality of the bone (Osteoporosis, etc)

  3. Malignant tumors (Non-epithelial tumors, thyroid cancer, etc)

  4. Parental consanguinity

  5. Premature atherosclerosis (Angina pectoris, myocardial infarction)

  6. Hypogonadism

  7. Short stature and low bodyweight
III. Genetic testing
Addendum: Mental retardation is seldom found in WS and cognitive
function is often appropriate for the age
Definite: All the cardinal signs and two others. Confirmed: All cardinal signs are present or a gene mutation in addition
to at least three cardinal signs.
Probable: The first three cardinal signs and any two others
Possible: Either cataracts or dermatological alterations and any four
others.		 Suspected: Two or more cardinal signs or 1–2 cardinal signs in addition
to other signs.
Exclusion: Onset of signs and symptoms before adolescence (except
stature)