Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.
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Kniest dysplasia
MONDO:0007987
spondyloepimetaphyseal dysplasia, Strudwick type
MONDO:0008476
spondylometaphyseal dysplasia, Kozlowski type
MONDO:0008477
spondylometaphyseal dysplasia, Schmidt type
MONDO:0008478
spondylometaphyseal dysplasia, 'corner fracture' type
MONDO:0008479
spondylometaphyseal dysplasia, Sedaghatian type
MONDO:0009593