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Results 1 - 5 of 5 for Spondyloepimetaphyseal dysplasia
  1. Spondyloepiphyseal dysplasia with marked metaphyseal changes 
    ... of the same disease spectrum. These conditions include spondyloepimetaphyseal dysplasia, Strudwick type (SEMD-S); spondylometaphyseal dysplasia, Algerian type ( ...
    https://medlineplus.gov/...dysplasia-with-marked-metaphyseal-changes - Genetics
  2. ACAN gene 
    ... Two other conditions associated with short stature, called spondyloepimetaphyseal dysplasia, aggrecan type and spondyloepiphyseal dysplasia, Kimberley type, are ...
    https://medlineplus.gov/genetics/gene/acan - Genetics
  3. Connective Tissue Disorders (National Library of Medicine)  
    Your connective tissue supports many different parts of your body, such as your skin, eyes, and heart. It is like a "cellular glue" that gives your body parts ...
    https://medlineplus.gov/connectivetissuedisorders.html - Health Topics
  4. Dwarfism (National Library of Medicine)  
    People with dwarfism have short stature. This means that their height is under 4' 10" as an adult. They are usually of normal intelligence. Dwarfism most often ...
    https://medlineplus.gov/dwarfism.html - Health Topics
  5. COL2A1 gene 
    ... in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Nat Genet. 1995 Sep;11(1): ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics