spondylometaphyseal dysplasia, Golden type
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.
MONDO:0016763
spondylometaphyseal dysplasia
is_a
X-linked spondylometaphyseal dysplasia
exact
spondylometaphyseal dysplasia Richmond type
related
spondylometaphyseal dysplasia X-linked
related