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Melorheostosis with osteopoikilosis

Disease definition

Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.

ORPHA:1879

  • Synonym(s):
    • MSBD syndrome
    • Mixed sclerosing bone dystrophy
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: M85.8
  • OMIM: -
  • UMLS: C2931505  C3149695
  • MeSH: -
  • GARD: 3690
  • MedDRA: -

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