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Non-rhizomelic chondrodysplasia punctata

Disease definition

Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata (see this term), a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.

ORPHA:176

Classification level: Group of disorders
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive or X-linked recessive or X-linked dominant or Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q77.3
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Article for general public

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