Orphanet: Hypochondroplasia

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Disease definition

A primary bone dysplasia with micromelia characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood, Antenatal, Neonatal, Infancy, Adolescent, Adult
  • ICD-10: Q77.4
  • OMIM: 146000
  • UMLS: C0410529
  • MeSH: -
  • GARD: 6724
  • MedDRA: 10020967

Detailed information


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