Learn About Spondyloepiphyseal Dysplasia

What is the definition of Spondyloepiphyseal Dysplasia?
Spondyloepiphyseal dysplasia (SED) is a group of rare genetic conditions that affect bone growth in the spine, arms, and legs. Other features include problems with vision and hearing, clubfeet, cleft palate, arthritis, and difficulty with breathing as curvature of the spine progresses. There are two main types of SED, Spondyloepiphyseal dysplasia congenita (which is present from bith) and Spondyloepiphyseal dysplasia tarda (which develops later in childhood or adolescence). Spondyloepiphyseal dysplasia is caused by genetic changes in genes that are responsible for making proteins that are needed for the creation of bone and cartilage. Most cases are due to a new (de novo) genetic change, although it can be passed down through families.
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What are the alternative names for Spondyloepiphyseal Dysplasia?
  • Spondyloepiphyseal dysplasia
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

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