Table 3.
Type of shortening | Examples | Location of abnormality | Examples |
Rhizomelic | Achondroplasia Spondyloepiphyseal dysplasia congenita | Epiphyseal | Chondrodysplasia punctata Spondyloepiphyseal dysplasia |
Mesomelic | Mesomelic dysplasia | Metaphyseal | Achondroplasia Chondroectodermal dysplasia |
Acromelic | Acrodysostosis | Diaphyseal | Progressive diaphyseal dysplasia |
Micromelic | Achondrogenesis | Combination | Spondylo-epimetaphyseal dysplasia Metatropic dysplasia Mucopolysaccharidoses |