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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1513
Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Brueton LA, Winter RM. Craniodiaphyseal dysplasia. J Med Genet. 1990 Nov;27(11):701-6.
Last updated on 04-27-20
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