spondyloepimetaphyseal dysplasia

Spondyloepimetaphyseal dysplasia is a genetic condition affecting the bones.

These changes are characteristic of spondyloepimetaphyseal dysplasia, Strudwick type.

Mutations in this gene have been shown to cause developmental disorders such as Spondyloepimetaphyseal dysplasia with joint laxity.

Both are classified as osteochondrodysplasias, specifically a spondyloepimetaphyseal dysplasia; this latter category consists of 27 separate disorders.

Spondyloepimetaphyseal dysplasia (genevieve type)

Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision.

This results in spondyloepimetaphyseal dysplasia, Strudwick type by affecting tissues that are rich in type II collagen.

Spondyloepimetaphyseal dysplasia, Strudwick type is a subtype of collagenopathy, types II and XI.

Spondyloepiphyseal dysplasia congenita: Spondyloepimetaphyseal dysplasia congenita can be caused by several types of mutations in the COL2A1 gene.

Spondyloepimetaphyseal dysplasia, Pakistani type is a form of spondyloepimetaphyseal dysplasia involving PAPSS2 (also known as "ATPSK2").

All of these changes interfere with the formation of mature triple-stranded type II collagen molecules, which results in this type of spondyloepimetaphyseal dysplasia congenita by affecting tissues that are rich in type II collagen.

Spondyloepimetaphyseal dysplasia, Strudwick type: All of the mutations in the COL2A1 gene characterized to date cause an amino acid switch in the pro-alpha1(II) chain of type II collagen; specifically, the amino acid glycine is replaced by a different amino acid.