Hyperostosis corticalis generalisata

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Hyperostosis corticalis generalisata

Synonyms: Hyperphosphatasemia tarda | Van Buchem disease

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Hyperostosis corticalis generalisata?

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