Term Name: | spondylometaphyseal dysplasia Algerian type |
---|---|
Synonyms: | spondylometaphyseal dysplasia with severe genu valgum, spondylometaphyseal dysplasia, Schmidt type |
Definition: | A spondylometaphyseal dysplasia characterized by dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet. |
Ontology: | Human Disease [DOID:0112296] ( DOID:0112296 ) |