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Craniodiaphyseal dysplasia

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
or Autosomal recessive
or Not applicable
Age of onset Childhood
  • M85.2
  • C0410539
MeSH -
MedDRA -


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.

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