spondyloepimetaphyseal dysplasia, Strudwick type
A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).
MONDO:0016761
spondyloepiphyseal dysplasia
excluded_subClassOf
MONDO:0016763
spondylometaphyseal dysplasia
is_a
MONDO:0022800
type 2 collagenopathy
is_a
MONDO:0100510
spondyloepimetaphyseal dysplasia
is_a
SEMDSTWK
related
SMED Strudwick type
related
SMED type 1
related
SmD
related
spondyloepimetaphyseal dysplasia Strudwick type
related
spondyloepimetaphyseal dysplasia, Strudwick type
exact