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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

Classification level: Disorder
  • 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: -

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.