Metaphyseal chondrodysplasia

Metaphyseal chondrodysplasia (also known as metaphyseal dysplasia or dysostosis) is a type of skeletal dysplasia.

Pathology

Classification
  • Schmid type - mild type, due to mutation in type X collagen (COL10A1 gene), metaphyses are cupped resembling rickets
  • Pena and Vaandrager type - intermediate type
  • Jansen type - severe type, irregular mineralisation in the metaphyses

When associated with lesion in spine, it is called spondylometaphyseal dysplasia.

Differential diagnosis

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Article information

rID: 24975
Section: Syndromes
Synonyms or Alternate Spellings:
  • Metaphyseal chondrodysplasias

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