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Results 1 - 10 of 19 for Spondyloepiphyseal dysplasia
  1. Spondyloepiphyseal dysplasia congenita 
    Spondyloepiphyseal dysplasia (SED) congenita is a disorder of bone development that causes short stature with a particularly short torso and short arms and legs. The parts ...
    https://medlineplus.gov/.../spondyloepiphyseal-dysplasia-congenita - Genetics
  2. X-linked spondyloepiphyseal dysplasia tarda 
    X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males. The name of the condition indicates ...
    https://medlineplus.gov/...linked-spondyloepiphyseal-dysplasia-tarda - Genetics
  3. Spondyloepiphyseal dysplasia with metatarsal shortening 
    Spondyloepiphyseal dysplasia (SED) with metatarsal shortening (formerly called Czech dysplasia) is an inherited condition that affects joint function and bone development. ...
    https://medlineplus.gov/...seal-dysplasia-with-metatarsal-shortening - Genetics
  4. Spondyloepiphyseal dysplasia with marked metaphyseal changes 
    Spondyloepiphyseal dysplasia (SED) with marked metaphyseal changes is a group of rare skeletal disorders. People with SED with marked metaphyseal changes have abnormalities ...
    https://medlineplus.gov/...dysplasia-with-marked-metaphyseal-changes - Genetics
  5. CHST3-related skeletal dysplasia 
    ... have been used to describe the condition include spondyloepiphyseal dysplasia, Omani type; humero-spinal dysostosis; and chondrodysplasia with ... SED with luxations, CHST3 type SED, Omani type Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia, Omani type ...
    https://medlineplus.gov/.../chst3-related-skeletal-dysplasia - Genetics
  6. Pseudoachondroplasia 
    ... disorder in their family. PSACH Pseudoachondroplastic dysplasia Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Genetic Testing Registry: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome ...
    https://medlineplus.gov/genetics/condition/pseudoachondroplasia - Genetics
  7. Progressive pseudorheumatoid dysplasia 
    ... of the condition. Progressive pseudorheumatoid arthropathy of childhood Spondyloepiphyseal dysplasia tarda with progressive arthropathy Genetic Testing Registry: Progressive ...
    https://medlineplus.gov/.../progressive-pseudorheumatoid-dysplasia - Genetics
  8. 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
  9. 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
  10. 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
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