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Hi, my father was diagnosed with Spondyloepiphyseal Dysplasia Tarda. A doctor told him few things about this disorder, but he didn’t understand him well. Can anyone explain to me what Spondyloepiphyseal Dysplasia Tarda is?

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Hi, I was diagnosed with Spondyloepiphyseal Dysplasia Tarda, so I know a few things about it. This is a group of disorders with primary involvement of the vertebrae and epiphyseal centers. It usually results in a short-trunk disproportionate dwarfism. SED Tarda is only one of two types of Spondyloepiphyseal Dysplasia. The other is SED congenita. There are many other types, but these are most common. Symptoms can include delayed developmental milestones, diminished endurance, and respiratory dysfunction. Most cases arise as random mutations, but it can also be can be transmitted as autosomal dominant trait.
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