Spondylometaphyseal dysplasia, corner fracture type (SMDCF) is characterized by short stature and waddling gait in childhood. The patients present with skeletal anomalies including the corner fracture-like lesion in the metaphyses of long bones. Seventeen affected individuals have mutations in the FN1 gene. It is inherited in an autosomal dominant manner.
FN1-SMDCF