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.
Save information for later
Sign Up
What are the alternative names for Spondyloepiphyseal Dysplasia?
  • Spondyloepiphyseal dysplasia
Who are the top Spondyloepiphyseal Dysplasia Local Doctors?
Learn about our expert tiers
Learn more
What are the latest Spondyloepiphyseal Dysplasia Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Spondyloepiphyseal Dysplasia?
Tired of the same old research?
Check Latest Advances