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GENATLAS PHENOTYPE
last update : 09-01-2018
Symbol SMDCF1
Location 2q35
Name spondylometaphyseal dysplasia, corner fracture type 1
Other name(s) Sutcliffe type of spondylometaphyseal dysplasia
Corresponding gene FN1
Main clinical features
  • characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures; these 'corner fractures,' which involve the distal tibia, the ulnar aspect of the distal radius, the proximal humerus, and the proximal femur, represent irregular ossification at the growth plates and secondary ossification centers
  • they become larger in older children and disappear after growth has stopped
  • severe scoliosis has been observed, whereas developmental coxa vara is less often seen, and proportional short stature, mild vertebral abnormalities, developmental coxa vara in most cases, metaphyseal abnormalities that included flakelike, triangular, or curvilinear ossification centers at the edges of the metaphyses
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Remark(s)