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Calvarial doughnut lesions-bone fragility syndrome

Disease definition

This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.

ORPHA:85192

Classification level: Disorder
  • Synonym(s):
    • Familial doughnut lesions of skull
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: M85.8
  • OMIM: 126550
  • UMLS: C1852022
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

It has been observed in approximately 20 individuals.

Clinical description

Clinical manifestations include the presence of cranial lumps, numerous pathologic fractures, elevated serum alkaline phosphatase levels, and dental caries.

Genetic counseling

Transmission is autosomal dominant.

- Last update: May 2007

Additional information

Further information on this disease

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