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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2959
Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat.
Less than ten cases have been described so far.
Other clinical features include immunodeficiency, high-pitched voice and progressive hearing and visual loss. Motor and intellectual development is normal or slightly impaired.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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