Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 5 of 5 for Spondyloepiphyseal dysplasia
  1. TRAPPC2 gene 
    ... gene have been found to cause X-linked spondyloepiphyseal dysplasia tarda. This condition impairs bone growth and occurs ... of the signs and symptoms of X-linked spondyloepiphyseal dysplasia tarda, although it is unclear why the skeletal ...
    https://medlineplus.gov/genetics/gene/trappc2 - Genetics
  2. ACAN gene 
    ... short stature, called spondyloepimetaphyseal dysplasia, aggrecan type and spondyloepiphyseal dysplasia, Kimberley type, are caused by variants in the ...
    https://medlineplus.gov/genetics/gene/acan - Genetics
  3. COL2A1 gene 
    ... the COL2A1 gene have been found to cause spondyloepiphyseal dysplasia (SED) with marked metaphyseal changes, a group of ... developing properly, which causes the characteristic features of spondyloepiphyseal dysplasia with marked metaphyseal changes. More About This Health ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  4. TRPV4 gene 
    ... include autosomal dominant brachyolmia; spondylometaphyseal dysplasia, Kozlowski type; spondyloepiphyseal dysplasia, Maroteaux type; and parastremmatic dysplasia. These related conditions ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  5. CHST3 gene 
    ... Celebi A, Mundlos S, Turkmen S. Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation ... Verbeke JI, Markie D, Sugahara K, Robertson SP. Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. Am ...
    https://medlineplus.gov/genetics/gene/chst3 - Genetics