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.
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Stickler syndrome type 1
MONDO:0007160
multiple epiphyseal dysplasia, Beighton type
MONDO:0007562
platyspondylic dysplasia, Torrance type
MONDO:0007895
Kniest dysplasia
MONDO:0007987
spondyloepiphyseal dysplasia congenita
MONDO:0008471
spondyloepimetaphyseal dysplasia, Strudwick type
MONDO:0008476