Exclusion criteria:
(1) onset of signs and symptoms before adolescence (except short stature)
(2) negative hyaluronic acid test
Cardinal signs:
(1) bilateral cataracts
(2) characteristic skin changes:
(2a) atrophic skin
(2b) pigmentary alterations
(2c) ulceration
(2d) hyperkeratosis
(2e) regional subcutaneous atrophy
(2f) "bird" facies
(3) short stature
(4) paternal consanguinity (3rd degree cousin or closer), or affected sibling
(5) premature graying and/or thinning of scalp hair
(6) positive 24 hour urinary hyaluronic acid test (excess excretion)
Other signs and symptoms:
(1) diabetes mellitus
(2) hypogonadism (secondary sexual underdevelopment, diminished fertility, testicular atrophy in male, ovarian atrophy in female)
(3) osteoporosis
(4) osteosclerosis of distal phalanges of fingers and/or toes (based on radiographs of hands and/or feet)
(5) soft tissue calcification
(6) premature atherosclerosis
(7) mesenchymal neoplasms, rare neoplasms, or multiple neoplasms
(8) voice changes (high pitched, squeaky, hoarse)
(9) flat feet
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Cardinal Signs
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Other Signs and Symptoms
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Diagnosis
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1 to 5 (+ urine hyaluronic acid if available)
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any 2
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definite
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1 to 3
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any 2
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probable
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either 1 or 2
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any 4
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possible
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other
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other
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unlikely
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