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Hyperconvex vertebral body endplates

MedGen UID:
Concept ID:
Anatomical Abnormality
HPO: HP:0004603

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperconvex vertebral body endplates

Conditions with this feature

Spondylometaphyseal dysplasia - Sutcliffe type
MedGen UID:
Concept ID:
Disease or Syndrome
Spondylometaphyseal dysplasia, corner fracture type (SMDCF) is a skeletal dysplasia characterized by short stature and a waddling gait in early childhood. Short stature may be present at birth or develop in early infancy. Individuals may present with short limbs and/or short trunk. Radiographic features include enlargement and corner fracture-like lesions of the metaphyses, developmental coxa vara, shortened long bones, scoliosis, and vertebral anomalies. Limited joint mobility and chronic pain are common. Vision impairment and glaucoma have been reported.

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