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Craniodiaphyseal dysplasia

Disease definition

Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.

ORPHA:1513

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive or Not applicable 
  • Age of onset: Childhood
  • ICD-10: M85.2
  • OMIM: 122860  218300
  • UMLS: C0410539
  • MeSH: -
  • GARD: 1567
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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