Hyperostosis corticalis generalisata

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Name:
Hyperostosis corticalis generalisata
Description:
Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.
ORPHAcode:
3416
Synonyms:
Hyperphosphatasemia tarda
Van Buchem disease
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14