spondylometaphyseal dysplasia Algerian type (DOID:0112296)
Alliance: disease page
Synonyms: spondylometaphyseal dysplasia with severe genu valgum; spondylometaphyseal dysplasia, Schmidt type
Alt IDs: OMIM:184253, MESH:C535794, ORDO:93316, UMLS_CUI:C1866688
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.