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Rhizomelic chondrodysplasia punctata

Disease definition

A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata) and coronal cleft vertebrae associated with profound postnatal growth deficiency, early-onset cataracts, severe intellectual disability and seizures.

ORPHA:177

Classification level: Disorder
  • Synonym(s):
    • RCDP
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q77.3
  • OMIM: 215100  222765  600121  616716
  • UMLS: C0282529
  • MeSH: D018902
  • GARD: -
  • MedDRA: -

Detailed information

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