Metaphyseal chondrodysplasia

Last revised by Aqeel Alameer on 21 Jul 2022

Metaphyseal chondrodysplasia (also known as metaphyseal dysplasia or dysostosis) is a type of skeletal dysplasia. It can occur as part of Shwachman-Diamond syndrome (SDS).

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 mineralization in the metaphyses

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

Differential diagnosis

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