Catalog
Spondylometaphyseal dysplasias
Link to WHO Definition
Spondylometaphyseal dysplasias – http://id.who.int/icd/entity/181781948
Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. The disorders are characterised by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses.
Parents
Children
- Spondylometaphyseal dysplasia, Schmidt type
- Micromelic dwarfism, Fryns type
- Spondylometaphyseal dysplasia, 'corner fracture' type
- Spondylometaphyseal dysplasia, Kozlowski type
- Spondylometaphyseal dysplasia - cone-rod dystrophy
- Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism
- Spondylometaphyseal dysplasia with combined immunodeficiency
- Spondylometaphyseal dysplasia, A4 type
- Axial spondylometaphyseal dysplasia
- Spondylometaphyseal dysplasia, Golden type