Table 1.

Revised diagnostic criteria for Werner syndrome

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

of-age)

1. Progeroid changes of hair

2. Cataract

3. Changes of skin, Intractable skin ulcers

4. Soft-tissue calcification

5. Bird-like face

6. Abnormal voice

II. Other signs and symptoms

1. Abnormal glucose and/or lipid metabolism

2. Deformation and abnormality of the bone

3. Malignant tumors

4. Parental consanguinity

5. Premature atherosclerosis

6. Hypogonadism

7. Short stature and low bodyweight

III. Genetic testing

Confirmed: All cardinal signs or a gene mutation + ≥ 3 cardi-

nal signs

Suspected: ≥ 2 cardinal signs or 1-2 cardinal signs + other signs

Source: Takemoto M, et al, 2013.⁴