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Spondylometaphyseal dysplasia, 'corner fracture' type

Disease definition

Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).


Classification level: Disorder
  • Synonym(s):
    • Spondylometaphyseal dysplasia, Sutcliffe type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal, Infancy, Childhood
  • ICD-10: Q77.8
  • ICD-11: LD24.4
  • OMIM: 184255
  • UMLS: C0432221
  • MeSH: C535793
  • GARD: 4991
  • MedDRA: -
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