Spondyloepiphyseal dysplasia tarda
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Spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism), moderate to severe spinal deformities, barrel-chest, disproportionately short trunk, and premature osteoarthritis.[1] Spondyloepiphyseal dysplasia tarda is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.[2]
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Genetics Home Reference (GHR) contains a condition summary on Spondyloepiphyseal dysplasia tarda. Click on the link to go to GHR and review this summary.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Spondyloepiphyseal dysplasia tarda. Click on the link to go to OMIM and review these resources.
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