Spondylometaphyseal dysplasia, Schmidt type
Spondylometaphyseal dysplasia, Schmidt type
Definition
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.
Also known as spondylometaphyseal dysplasia Algerian type, spondylometaphyseal dysplasia Schmidt type, spondylometaphyseal dysplasia with severe genu valgum, spondylometaphyseal dysplasia, Algerian type, spondylometaphyseal dysplasia, Schmidt type — per MONDO