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Craniometaphyseal dysplasia

Disease definition

Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.

ORPHA:1522

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q78.8
  • OMIM: 123000  218400
  • UMLS: C3887594
  • MeSH: -
  • GARD: -
  • MedDRA: -

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