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Topic: Epimetaphyseal skeletal dysplasia


  
  Schwartz-Jampel syndrome: Encyclopedia of Genetic Disorders
Schwartz-Jampel syndrome (SJS) is a rare, inherited condition of the skeletal and muscle systems that causes short stature, joint limitations, and particular facial features.
In addition to muscle problems, the bones in the skeleton do not develop normally and this is why SJS may also be called a type of skeletal dysplasia.
Abnormal bone shape and poor bone growth result in decreased total height, incorrect arm and leg postures, as well as curving of the spine (scoliosis).
health.enotes.com /genetic-disorders-encyclopedia/schwartz-jampel-syndrome   (2091 words)

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