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Pseudoachondroplasia

Disease definition

Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.

ORPHA:750

  • Synonym(s):
    • Pseudoachondroplastic dysplasia
    • Pseudoachondroplastic spondyloepiphyseal dysplasia
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q77.8
  • OMIM: 177170
  • UMLS: C0410538
  • MeSH: C535819
  • GARD: 4540
  • MedDRA: -

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