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Results 1 - 3 of 3 for Spondyloepiphyseal dysplasia congenita
  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. COL2A1 gene 
    ... the COL2A1 gene have been found to cause spondyloepiphyseal dysplasia (SED) congenita, a disorder of bone development that causes short ... signs and symptoms seen in people with SED congenita. More About This Health Condition ... spondyloepiphyseal dysplasia (SED) with metatarsal shortening, a condition that affects ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  3. Spondyloepiphyseal dysplasia with marked metaphyseal changes 
    ... Testing Registry: Spondyloepimetaphyseal dysplasia, Strudwick type ... PubMed Amirfeyz R, Taylor ...
    https://medlineplus.gov/...dysplasia-with-marked-metaphyseal-changes - Genetics