spondylometaphyseal dysplasia, Schmidt type
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
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