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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1795
Peripheral dysostosis is a rare primary bone dysplasia characterized by cone- shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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