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Hyperostosis corticalis generalisata

Disease definition

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.

ORPHA:3416

  • Synonym(s):
    • Hyperphosphatasemia tarda
    • Van Buchem disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or Autosomal dominant 
  • Age of onset: Childhood, Adolescent
  • ICD-10: M85.2
  • OMIM: 239100  607636
  • UMLS: C0432272
  • MeSH: -
  • GARD: 2833
  • MedDRA: -

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