Spondyloepimetaphyseal dysplasia

Spondyloepimetaphyseal dysplasia is a genetic condition affecting the bones. ^[1]

3 relations: Spondyloepimetaphyseal dysplasia, Pakistani type, Spondyloepimetaphyseal dysplasia, Strudwick type, Spondyloepiphyseal dysplasia congenita.

Spondyloepimetaphyseal dysplasia, Pakistani type

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

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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.

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Spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing.

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Redirects here:

Dappled metaphysis syndrome, SED Strudwick, SEMD, Strudwick type, SMED, Strudwick type, SMED, type I, Spondylometaepiphyseal dysplasia congenita, Strudwick type, Spondylometaphyseal Dysplasia, Strudwick Type, Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia (SMD), Strudwick syndrome.

References

[1] https://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia

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