Spondyloepimetaphyseal Dysplasia

List Of Diseases (S) - Sp - Spo - Spon - Spondy
... Spondylocarpotarsal synostosis Spondylocostal dysplasia dominant Spondylodysplasia brachyolmia Spondyloenchondrodysplasia Spondyloepimetaphyseal dysplasia congenita ...

Spondyloepimetaphyseal Dysplasia, Strudwick Type
... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision ... Spondyloepimetaphyseal dysplasia, Strudwick type is a subtype of collagenopathy, types II and XI ... at birth are very similar to those of spondyloepiphyseal dysplasia congenita, a related skeletal disorder ...

Collagen, Type II, Alpha 1 - Related Conditions
... Platyspondylic lethal skeletal dysplasia, Torrance typeFewer than 10 mutations in the COL2A1 gene have been identified in people with platyspondylic lethal skeletal dysplasia, Torrance type ... Kniest dysplasia Most of the mutations responsible for Kniest dysplasia cause abnormally short pro-alpha1(II) collagen chains to be produced in the cell ... normal, causing the signs and symptoms of Kniest dysplasia ...