Orphanet: Czech dysplasia, metatarsal type
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Czech dysplasia, metatarsal type

Disease definition

A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.

ORPHA:137678

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Childhood
  • ICD-10: Q77.7
  • OMIM: 609162
  • UMLS: C1836683
  • MeSH: C535766
  • GARD: 10220
  • MedDRA: -
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