Spondyloepiphyseal dysplasia tarda X-linked
Other Names for this Disease
- DES embryofetopathy
- DES syndrome
- Diethylstilbestrol embryofetopathy
- Diethylstilbestrol syndrome
- Distilbene embryofetopathy
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This condition is caused by mutations in the TRAPPC2 gene (sometimes called the SEDL gene), which is located on the X chromosome. The TRAPPC2 gene provides instructions for producing a protein called sedlin. The function of this protein is unclear. Researchers believe that sedlin is part of a larger protein complex, which helps transport proteins between various cell organelles. Mutations in TRAPPC2 affect how the sedlin protein is made, which ultimately affects bone growth.
Last updated: 5/10/2011
- X-linked spondyloepiphyseal dysplasia tarda. Genetics Home Reference (GHR). June 2008; http://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda. Accessed 5/10/2011.