spondylometaphyseal dysplasia, Schmidt type
A spondylometaphyseal dysplasia caused by a variation in COL2A1 gene. It is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.
MONDO:0016763
spondylometaphyseal dysplasia
is_a
MONDO:0022800
type 2 collagenopathy
is_a
spondylometaphyseal dysplasia Algerian type
exact
spondylometaphyseal dysplasia Schmidt type
exact
spondylometaphyseal dysplasia with severe genu valgum
exact
spondylometaphyseal dysplasia, Algerian type
exact
spondylometaphyseal dysplasia, Schmidt type
exact