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.

6. (Positive 24-hour urinary hyaluronic acid test, when available).

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 others.

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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