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Metaphyseal dysplasia, Braun-Tinschert type

Disease definition

Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.

ORPHA:85188

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q78.5
  • OMIM: 605946
  • UMLS: C1853825
  • MeSH: -
  • GARD: -
  • MedDRA: -
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