| Term Name: | spondylometaphyseal dysplasia corner fracture type |
|---|---|
| Synonyms: | SMDCF, spondylometaphyseal dysplasia Sutcliffe type |
| Definition: | A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35. |
| Ontology: | Human Disease [DOID:0112297] ( DOID:0112297 ) |