Category: Medical
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Kniest Dysplasia
Description Kniest Dysplasia is a very rare condition that leads to short stature, malformed bones and joints, and sometimes vision and hearing problems. The condition was named after Dr. Wilhelm Kniest in 1952. Kniest affects in 1,000,000 live births. The disorder affects males and females in equal numbers. Symptoms At birth: In children and adults:…
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SEDC
Description Spondyloepiphyseal dysplasia congenita (SEDC) is an inherited bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. This condition affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. New cases of SEDC affects one in 100,000 live births.…
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Spondylometaphyseal Dysplasia Kozlowski (SMD-K)
Description SMD-K is an extremely rare form short-trunk dwarfism. The arms and legs are proportionally longer than the body trunk. Spondylo means spine. Only the spine and bone ends (metaphyseal) are affected, though there are some associated hip problems (see description and potential complications below). It is one of the more mild forms of dwarfism.…