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Results 1 - 2 of 2 for Spondyloepiphyseal dysplasia with metatarsal shortening
  1. 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
  2. COL2A1 gene 
    ... Health Condition A specific COL2A1 gene variant causes spondyloepiphyseal dysplasia (SED) with metatarsal shortening, a condition that affects joint function and bone ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics