spondyloepimetaphyseal dysplasia, Strudwick type (DOID:0080028)
Alliance: disease page
Alt IDs: OMIM:184250, ORDO:93346
Definition: A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).