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Non-rhizomelic chondrodysplasia punctata

Disease definition

Non-rhizomelic 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. Non-rhizomelic 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

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.